Canonical Allele Identifier: CA871054588
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

dbSNP Id: rs1190356470
gnomAD v3: X-124346132-C-T
gnomAD v4: X-124346132-C-T
MyVariant Identifiers: chrX:g.123479982C>T (hg19) chrX:g.124346132C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346132C>T , CM000685.2:g.124346132C>T GRCh38
NC_000023.10:g.123479982C>T , CM000685.1:g.123479982C>T GRCh37
NC_000023.9:g.123307663C>T NCBI36
NG_007464.1:g.4833C>T , LRG_106:g.4833C>T
NG_033796.2:g.390573C>T , LRG_782:g.390573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19629C>T (SH2D1A)
ENST00000698113.1:c.-511C>T (SH2D1A) ENSP00000513571.1:n.-511C>T
ENST00000469481.1:n.454-65690C>T (STAG2)
ENST00000635645.1:n.499-19629C>T (SH2D1A)
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