Canonical Allele Identifier: CA2628214356

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711392G>A , CM000677.2:g.44711392G>A GRCh38
NC_000015.9:g.45003590G>A , CM000677.1:g.45003590G>A GRCh37
NC_000015.8:g.42790882G>A NCBI36
NG_012920.1:g.4906G>A
NG_012920.2:g.4916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.35G>A (B2M)
XM_011521338.1:c.-626C>T (PATL2) XP_011519640.1:n.-626C>T
XM_011521339.1:c.-507C>T (PATL2) XP_011519641.1:n.-507C>T
XM_011521340.1:c.-448C>T (PATL2) XP_011519642.1:n.-448C>T
XM_011521343.1:c.-710C>T (PATL2) XP_011519645.1:n.-710C>T
XM_011521345.1:c.-681C>T (PATL2) XP_011519647.1:n.-681C>T
XM_011521338.3:c.-626C>T (PATL2) XP_011519640.1:n.-626C>T
XM_011521339.3:c.-507C>T (PATL2) XP_011519641.1:n.-507C>T
XM_011521340.3:c.-448C>T (PATL2) XP_011519642.1:n.-448C>T
XM_011521343.3:c.-710C>T (PATL2) XP_011519645.1:n.-710C>T
XM_011521345.3:c.-681C>T (PATL2) XP_011519647.1:n.-681C>T