Canonical Allele Identifier: CA2694635361
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

gnomAD v4: X-124346303-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346303A>T , CM000685.2:g.124346303A>T GRCh38
NC_000023.10:g.123480153A>T , CM000685.1:g.123480153A>T GRCh37
NC_000023.9:g.123307834A>T NCBI36
NG_007464.1:g.5004A>T , LRG_106:g.5004A>T
NG_033796.2:g.390744A>T , LRG_782:g.390744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19458A>T (SH2D1A)
ENST00000698113.1:c.-340A>T (SH2D1A) ENSP00000513571.1:n.-340A>T
ENST00000469481.1:n.454-65519A>T (STAG2)
ENST00000635645.1:n.499-19458A>T (SH2D1A)
NM_001114937.2:c.-340A>T (SH2D1A) NP_001108409.1:n.-340A>T
NM_002351.4:c.-340A>T , LRG_106t1:c.-340A>T (SH2D1A) NP_002342.1:n.-340A>T
Search 100 bp 5'
Search 100 bp 3'