Canonical Allele Identifier: CA335071137
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

dbSNP Id: rs750079440
gnomAD v2: X-123480099-G-C
gnomAD v3: X-124346249-G-C
gnomAD v4: X-124346249-G-C
MyVariant Identifiers: chrX:g.123480099G>C (hg19) chrX:g.124346249G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346249G>C , CM000685.2:g.124346249G>C GRCh38
NC_000023.10:g.123480099G>C , CM000685.1:g.123480099G>C GRCh37
NC_000023.9:g.123307780G>C NCBI36
NG_007464.1:g.4950G>C , LRG_106:g.4950G>C
NG_033796.2:g.390690G>C , LRG_782:g.390690G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19512G>C (SH2D1A)
ENST00000698113.1:c.-394G>C (SH2D1A) ENSP00000513571.1:n.-394G>C
ENST00000469481.1:n.454-65573G>C (STAG2)
ENST00000635645.1:n.499-19512G>C (SH2D1A)
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