Canonical Allele Identifier: CA871054646
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

dbSNP Id: rs1305750675
gnomAD v3: X-124346246-C-T
gnomAD v4: X-124346246-C-T
MyVariant Identifiers: chrX:g.123480096C>T (hg19) chrX:g.124346246C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346246C>T , CM000685.2:g.124346246C>T GRCh38
NC_000023.10:g.123480096C>T , CM000685.1:g.123480096C>T GRCh37
NC_000023.9:g.123307777C>T NCBI36
NG_007464.1:g.4947C>T , LRG_106:g.4947C>T
NG_033796.2:g.390687C>T , LRG_782:g.390687C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19515C>T (SH2D1A)
ENST00000698113.1:c.-397C>T (SH2D1A) ENSP00000513571.1:n.-397C>T
ENST00000469481.1:n.454-65576C>T (STAG2)
ENST00000635645.1:n.499-19515C>T (SH2D1A)
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