Canonical Allele Identifier: CA2628214325

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711362C>T , CM000677.2:g.44711362C>T GRCh38
NC_000015.9:g.45003560C>T , CM000677.1:g.45003560C>T GRCh37
NC_000015.8:g.42790852C>T NCBI36
NG_012920.1:g.4876C>T
NG_012920.2:g.4886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.5C>T (B2M)
XM_011521338.1:c.-596G>A (PATL2) XP_011519640.1:n.-596G>A
XM_011521339.1:c.-477G>A (PATL2) XP_011519641.1:n.-477G>A
XM_011521340.1:c.-418G>A (PATL2) XP_011519642.1:n.-418G>A
XM_011521343.1:c.-680G>A (PATL2) XP_011519645.1:n.-680G>A
XM_011521345.1:c.-651G>A (PATL2) XP_011519647.1:n.-651G>A
XM_011521338.3:c.-596G>A (PATL2) XP_011519640.1:n.-596G>A
XM_011521339.3:c.-477G>A (PATL2) XP_011519641.1:n.-477G>A
XM_011521340.3:c.-418G>A (PATL2) XP_011519642.1:n.-418G>A
XM_011521343.3:c.-680G>A (PATL2) XP_011519645.1:n.-680G>A
XM_011521345.3:c.-651G>A (PATL2) XP_011519647.1:n.-651G>A
NM_001387260.1:c.-106G>A (PATL2) NP_001374189.1:n.-106G>A