Check out the Mutalyzer 3 Alpha release!

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


Intronic position given for a non-genomic reference sequence. Tip: make use of a genomic reference sequence, e.g., NC_000002.12(NM_022437.2), NC_000002.11(NM_022437.2).

1 Error, 0 Warnings.


Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 153 -90 63
2 154 255 64 165
3 256 412 166 322
4 413 651 323 561
5 652 784 562 694
6 785 1054 695 964
7 1055 1217 965 1127
8 1218 1301 1128 1211
9 1302 1501 1212 1411
10 1502 1578 1412 1488
11 1579 1846 1489 1756
12 1847 1974 1757 1884
13 1975 2665 1885 *553

CDS information

g. c.
Start 91 1
Stop 2112 2022

Links

Download this reference sequence file: NM_022437.2.gb


Name ID Locus tag Product Link method
ABCG8_v001 NM_022437.2 exhaustion
ABCG8_i001 NP_071882.1 ATP-binding cassette sub-family G member 8 isoform 1 exhaustion

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