Canonical Allele Identifier: CA2628214328

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711364A>T , CM000677.2:g.44711364A>T GRCh38
NC_000015.9:g.45003562A>T , CM000677.1:g.45003562A>T GRCh37
NC_000015.8:g.42790854A>T NCBI36
NG_012920.1:g.4878A>T
NG_012920.2:g.4888A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.7A>T (B2M)
XM_011521338.1:c.-598T>A (PATL2) XP_011519640.1:n.-598T>A
XM_011521339.1:c.-479T>A (PATL2) XP_011519641.1:n.-479T>A
XM_011521340.1:c.-420T>A (PATL2) XP_011519642.1:n.-420T>A
XM_011521343.1:c.-682T>A (PATL2) XP_011519645.1:n.-682T>A
XM_011521345.1:c.-653T>A (PATL2) XP_011519647.1:n.-653T>A
XM_011521338.3:c.-598T>A (PATL2) XP_011519640.1:n.-598T>A
XM_011521339.3:c.-479T>A (PATL2) XP_011519641.1:n.-479T>A
XM_011521340.3:c.-420T>A (PATL2) XP_011519642.1:n.-420T>A
XM_011521343.3:c.-682T>A (PATL2) XP_011519645.1:n.-682T>A
XM_011521345.3:c.-653T>A (PATL2) XP_011519647.1:n.-653T>A
NM_001387260.1:c.-108T>A (PATL2) NP_001374189.1:n.-108T>A