Canonical Allele Identifier: CA10653774
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 367867
ClinVar RCV Id: RCV000371208 RCV001584102
dbSNP Id: rs146024883
gnomAD v2: X-123480175-G-C
gnomAD v3: X-124346325-G-C
gnomAD v4: X-124346325-G-C
MyVariant Identifiers: chrX:g.123480175G>C (hg19) chrX:g.124346325G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346325G>C , CM000685.2:g.124346325G>C GRCh38
NC_000023.10:g.123480175G>C , CM000685.1:g.123480175G>C GRCh37
NC_000023.9:g.123307856G>C NCBI36
NG_007464.1:g.5026G>C , LRG_106:g.5026G>C
NG_033796.2:g.390766G>C , LRG_782:g.390766G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19436G>C (SH2D1A)
ENST00000698113.1:c.-318G>C (SH2D1A) ENSP00000513571.1:n.-318G>C
ENST00000469481.1:n.454-65497G>C (STAG2)
ENST00000635645.1:n.499-19436G>C (SH2D1A)
NM_001114937.2:c.-318G>C (SH2D1A) NP_001108409.1:n.-318G>C
NM_002351.4:c.-318G>C , LRG_106t1:c.-318G>C (SH2D1A) NP_002342.1:n.-318G>C
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