Canonical Allele Identifier: CA871054615
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

dbSNP Id: rs1299002082
gnomAD v3: X-124346177-A-T
gnomAD v4: X-124346177-A-T
MyVariant Identifiers: chrX:g.123480027A>T (hg19) chrX:g.124346177A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346177A>T , CM000685.2:g.124346177A>T GRCh38
NC_000023.10:g.123480027A>T , CM000685.1:g.123480027A>T GRCh37
NC_000023.9:g.123307708A>T NCBI36
NG_007464.1:g.4878A>T , LRG_106:g.4878A>T
NG_033796.2:g.390618A>T , LRG_782:g.390618A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19584A>T (SH2D1A)
ENST00000698113.1:c.-466A>T (SH2D1A) ENSP00000513571.1:n.-466A>T
ENST00000469481.1:n.454-65645A>T (STAG2)
ENST00000635645.1:n.499-19584A>T (SH2D1A)
Search 100 bp 5'
Search 100 bp 3'