Canonical Allele Identifier: CA2547106031
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346552G>C , CM000685.2:g.124346552G>C GRCh38
NC_000023.10:g.123480402G>C , CM000685.1:g.123480402G>C GRCh37
NC_000023.9:g.123308083G>C NCBI36
NG_007464.1:g.5253G>C , LRG_106:g.5253G>C
NG_033796.2:g.390993G>C , LRG_782:g.390993G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360027.5:c.-91G>C (SH2D1A) ENSP00000353126.4:n.-91G>C
ENST00000647259.2:c.-91G>C (SH2D1A) ENSP00000494582.1:n.-91G>C
ENST00000698112.1:n.499-19209G>C (SH2D1A)
ENST00000698113.1:c.-91G>C (SH2D1A) ENSP00000513571.1:n.-91G>C
ENST00000698114.1:n.116+66G>C (SH2D1A)
ENST00000698115.1:n.72+66G>C (SH2D1A)
ENST00000698116.1:c.-58-33G>C (SH2D1A) ENSP00000513572.1:n.-58-33G>C
ENST00000698117.1:c.-91G>C (SH2D1A) ENSP00000513573.1:n.-91G>C
ENST00000647259.1:c.-91G>C (SH2D1A) ENSP00000494582.1:n.-91G>C
ENST00000360027.4:c.-91G>C (SH2D1A) ENSP00000353126.4:n.-91G>C
ENST00000371139.8:c.-91G>C (SH2D1A) ENSP00000360181.4:n.-91G>C
ENST00000469481.1:n.454-65270G>C (STAG2)
ENST00000635645.1:n.499-19209G>C (SH2D1A)
NM_001114937.2:c.-91G>C (SH2D1A) NP_001108409.1:n.-91G>C
NM_002351.4:c.-91G>C , LRG_106t1:c.-91G>C (SH2D1A) NP_002342.1:n.-91G>C