Canonical Allele Identifier: CA2694635382
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

gnomAD v4: X-124346316-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346316G>T , CM000685.2:g.124346316G>T GRCh38
NC_000023.10:g.123480166G>T , CM000685.1:g.123480166G>T GRCh37
NC_000023.9:g.123307847G>T NCBI36
NG_007464.1:g.5017G>T , LRG_106:g.5017G>T
NG_033796.2:g.390757G>T , LRG_782:g.390757G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19445G>T (SH2D1A)
ENST00000698113.1:c.-327G>T (SH2D1A) ENSP00000513571.1:n.-327G>T
ENST00000469481.1:n.454-65506G>T (STAG2)
ENST00000635645.1:n.499-19445G>T (SH2D1A)
NM_001114937.2:c.-327G>T (SH2D1A) NP_001108409.1:n.-327G>T
NM_002351.4:c.-327G>T , LRG_106t1:c.-327G>T (SH2D1A) NP_002342.1:n.-327G>T
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