Canonical Allele Identifier: CA2694635393
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

gnomAD v4: X-124346325-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346325G>A , CM000685.2:g.124346325G>A GRCh38
NC_000023.10:g.123480175G>A , CM000685.1:g.123480175G>A GRCh37
NC_000023.9:g.123307856G>A NCBI36
NG_007464.1:g.5026G>A , LRG_106:g.5026G>A
NG_033796.2:g.390766G>A , LRG_782:g.390766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19436G>A (SH2D1A)
ENST00000698113.1:c.-318G>A (SH2D1A) ENSP00000513571.1:n.-318G>A
ENST00000469481.1:n.454-65497G>A (STAG2)
ENST00000635645.1:n.499-19436G>A (SH2D1A)
NM_001114937.2:c.-318G>A (SH2D1A) NP_001108409.1:n.-318G>A
NM_002351.4:c.-318G>A , LRG_106t1:c.-318G>A (SH2D1A) NP_002342.1:n.-318G>A
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