Please insert a variant description using the HGVS format.
0 Errors, 0 Warnings.
Raw variant 1: substitution at 2338
GCGTCGTCCCTGATTGACAACATCC C GTTCACTGCTACCATGATTCCCGTG
GCGTCGTCCCTGATTGACAACATCC T GTTCACTGCTACCATGATTCCCGTG
View original variant in UCSC Genome Browser
(Not for use in LSDBs in case of protein-coding transcripts).
NM_000275.2(OCA2_i001):p.(Pro743Leu)
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*
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*
Raw variant | Created | Deleted |
---|---|---|
1 |
Genomic description: 2338C>T
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 |
g. | c. | |
---|---|---|
Start | 111 | 1 |
Stop | 2627 | 2517 |
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.