Canonical Allele Identifier: CA2628214355

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711391G>A , CM000677.2:g.44711391G>A GRCh38
NC_000015.9:g.45003589G>A , CM000677.1:g.45003589G>A GRCh37
NC_000015.8:g.42790881G>A NCBI36
NG_012920.1:g.4905G>A
NG_012920.2:g.4915G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695792.1:n.34G>A (B2M)
XM_011521338.1:c.-625C>T (PATL2) XP_011519640.1:n.-625C>T
XM_011521339.1:c.-506C>T (PATL2) XP_011519641.1:n.-506C>T
XM_011521340.1:c.-447C>T (PATL2) XP_011519642.1:n.-447C>T
XM_011521343.1:c.-709C>T (PATL2) XP_011519645.1:n.-709C>T
XM_011521345.1:c.-680C>T (PATL2) XP_011519647.1:n.-680C>T
XM_011521338.3:c.-625C>T (PATL2) XP_011519640.1:n.-625C>T
XM_011521339.3:c.-506C>T (PATL2) XP_011519641.1:n.-506C>T
XM_011521340.3:c.-447C>T (PATL2) XP_011519642.1:n.-447C>T
XM_011521343.3:c.-709C>T (PATL2) XP_011519645.1:n.-709C>T
XM_011521345.3:c.-680C>T (PATL2) XP_011519647.1:n.-680C>T