Canonical Allele Identifier: CA969306686

Linked Data

dbSNP Id: rs2086858580

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711397G>C , CM000677.2:g.44711397G>C GRCh38
NC_000015.9:g.45003595G>C , CM000677.1:g.45003595G>C GRCh37
NC_000015.8:g.42790887G>C NCBI36
NG_012920.1:g.4911G>C
NG_012920.2:g.4921G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695792.1:n.40G>C (B2M)
XM_011521338.3:c.-631C>G (PATL2) XP_011519640.1:n.-631C>G
XM_011521339.3:c.-512C>G (PATL2) XP_011519641.1:n.-512C>G
XM_011521340.3:c.-453C>G (PATL2) XP_011519642.1:n.-453C>G
XM_011521343.3:c.-715C>G (PATL2) XP_011519645.1:n.-715C>G
XM_011521345.3:c.-686C>G (PATL2) XP_011519647.1:n.-686C>G