Canonical Allele Identifier: CA335071158
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

dbSNP Id: rs991873159
gnomAD v2: X-123480186-A-G
gnomAD v3: X-124346336-A-G
gnomAD v4: X-124346336-A-G
MyVariant Identifiers: chrX:g.123480186A>G (hg19) chrX:g.124346336A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346336A>G , CM000685.2:g.124346336A>G GRCh38
NC_000023.10:g.123480186A>G , CM000685.1:g.123480186A>G GRCh37
NC_000023.9:g.123307867A>G NCBI36
NG_007464.1:g.5037A>G , LRG_106:g.5037A>G
NG_033796.2:g.390777A>G , LRG_782:g.390777A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698112.1:n.499-19425A>G (SH2D1A)
ENST00000698113.1:c.-307A>G (SH2D1A) ENSP00000513571.1:n.-307A>G
ENST00000469481.1:n.454-65486A>G (STAG2)
ENST00000635645.1:n.499-19425A>G (SH2D1A)
NM_001114937.2:c.-307A>G (SH2D1A) NP_001108409.1:n.-307A>G
NM_002351.4:c.-307A>G , LRG_106t1:c.-307A>G (SH2D1A) NP_002342.1:n.-307A>G
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