Canonical Allele Identifier: CA2515056984
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346388G>T , CM000685.2:g.124346388G>T GRCh38
NC_000023.10:g.123480238G>T , CM000685.1:g.123480238G>T GRCh37
NC_000023.9:g.123307919G>T NCBI36
NG_007464.1:g.5089G>T , LRG_106:g.5089G>T
NG_033796.2:g.390829G>T , LRG_782:g.390829G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19373G>T (SH2D1A)
ENST00000698113.1:c.-255G>T (SH2D1A) ENSP00000513571.1:n.-255G>T
ENST00000698114.1:n.18G>T (SH2D1A)
ENST00000371139.8:c.-255G>T (SH2D1A) ENSP00000360181.4:n.-255G>T
ENST00000469481.1:n.454-65434G>T (STAG2)
ENST00000635645.1:n.499-19373G>T (SH2D1A)
NM_001114937.2:c.-255G>T (SH2D1A) NP_001108409.1:n.-255G>T
NM_002351.4:c.-255G>T , LRG_106t1:c.-255G>T (SH2D1A) NP_002342.1:n.-255G>T