Canonical Allele Identifier: CA2628214362

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711399C>A , CM000677.2:g.44711399C>A GRCh38
NC_000015.9:g.45003597C>A , CM000677.1:g.45003597C>A GRCh37
NC_000015.8:g.42790889C>A NCBI36
NG_012920.1:g.4913C>A
NG_012920.2:g.4923C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.42C>A (B2M)
XM_011521338.3:c.-633G>T (PATL2) XP_011519640.1:n.-633G>T
XM_011521339.3:c.-514G>T (PATL2) XP_011519641.1:n.-514G>T
XM_011521340.3:c.-455G>T (PATL2) XP_011519642.1:n.-455G>T
XM_011521343.3:c.-717G>T (PATL2) XP_011519645.1:n.-717G>T
XM_011521345.3:c.-688G>T (PATL2) XP_011519647.1:n.-688G>T