Canonical Allele Identifier: CA2694635303
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

gnomAD v4: X-124346208-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346208A>C , CM000685.2:g.124346208A>C GRCh38
NC_000023.10:g.123480058A>C , CM000685.1:g.123480058A>C GRCh37
NC_000023.9:g.123307739A>C NCBI36
NG_007464.1:g.4909A>C , LRG_106:g.4909A>C
NG_033796.2:g.390649A>C , LRG_782:g.390649A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19553A>C (SH2D1A)
ENST00000698113.1:c.-435A>C (SH2D1A) ENSP00000513571.1:n.-435A>C
ENST00000469481.1:n.454-65614A>C (STAG2)
ENST00000635645.1:n.499-19553A>C (SH2D1A)
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