Canonical Allele Identifier: CA2694635329
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

gnomAD v4: X-124346275-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346275C>G , CM000685.2:g.124346275C>G GRCh38
NC_000023.10:g.123480125C>G , CM000685.1:g.123480125C>G GRCh37
NC_000023.9:g.123307806C>G NCBI36
NG_007464.1:g.4976C>G , LRG_106:g.4976C>G
NG_033796.2:g.390716C>G , LRG_782:g.390716C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19486C>G (SH2D1A)
ENST00000698113.1:c.-368C>G (SH2D1A) ENSP00000513571.1:n.-368C>G
ENST00000469481.1:n.454-65547C>G (STAG2)
ENST00000635645.1:n.499-19486C>G (SH2D1A)
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