Name Checker

Please insert a variant description using the HGVS format.

Examples: AB026906.1:c.40_42del, NG_012337.1(SDHD_v001):c.274G>T, LRG_24t1:c.159dup

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0 Errors, 0 Warnings.

Overview of the raw variants

Raw variant 1: substitution at 2338

GCGTCGTCCCTGATTGACAACATCC C GTTCACTGCTACCATGATTCCCGTG
GCGTCGTCCCTGATTGACAACATCC T GTTCACTGCTACCATGATTCCCGTG

View original variant in UCSC Genome Browser

Description relative to transcription start

(Not for use in LSDBs in case of protein-coding transcripts).

NM_000275.2:n.2338C>T

Affected transcripts - 1

NM_000275.2(OCA2_v001):c.2228C>T

Affected proteins - 1

NM_000275.2(OCA2_i001):p.(Pro743Leu)

Reference protein

  1  MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS
 61  WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF
121  ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV
181  MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG
241  PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV
301  SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS
361  LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG
421  RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA
481  ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE
541  PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE
601  DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW
661  LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR
721  LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG
781  NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN*

Protein predicted from variant coding sequence

  1  MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS
 61  WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF
121  ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV
181  MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG
241  PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV
301  SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS
361  LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG
421  RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA
481  ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE
541  PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE
601  DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW
661  LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR
721  LIAAIVLVVW VSALASSLID NILFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG
781  NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN*

Effects on Restriction sites

Raw variant Created Deleted
1

Experimental services

Genomic description: 2338C>T

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 89 -110 -22
2 90 337 -21 227
3 338 436 228 326
4 437 625 327 515
5 626 683 516 573
6 684 756 574 646
7 757 917 647 807
8 918 1000 808 890
9 1001 1154 891 1044
10 1155 1226 1045 1116
11 1227 1292 1117 1182
12 1293 1349 1183 1239
13 1350 1474 1240 1364
14 1475 1613 1365 1503
15 1614 1746 1504 1636
16 1747 1894 1637 1784
17 1895 1952 1785 1842
18 1953 2061 1843 1951
19 2062 2189 1952 2079
20 2190 2249 2080 2139
21 2250 2354 2140 2244
22 2355 2448 2245 2338
23 2449 2542 2339 2432
24 2543 3140 2433 *513

CDS information

g. c.
Start 111 1
Stop 2627 2517

Links

Download this reference sequence file: NM_000275.2.gb

Name ID Locus tag Product Link method
OCA2_v001 NM_000275.2 exhaustion
OCA2_i001 NP_000266.2 P protein isoform 1 exhaustion

Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.