Canonical Allele Identifier: CA255604
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10908
ClinVar RCV Id: RCV000011655
dbSNP Id: rs111033629

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346645G>T , CM000685.2:g.124346645G>T GRCh38
NC_000023.10:g.123480495G>T , CM000685.1:g.123480495G>T GRCh37
NC_000023.9:g.123308176G>T NCBI36
NG_007464.1:g.5346G>T , LRG_106:g.5346G>T
NG_033796.2:g.391086G>T , LRG_782:g.391086G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360027.5:c.3G>T (SH2D1A) ENSP00000353126.4:p.Met1Ile
ENST00000647259.2:c.3G>T (SH2D1A) ENSP00000494582.1:p.Met1Ile
ENST00000698112.1:n.499-19116G>T (SH2D1A)
ENST00000698113.1:c.3G>T (SH2D1A) ENSP00000513571.1:p.Met1Ile
ENST00000698114.1:n.116+159G>T (SH2D1A)
ENST00000698115.1:n.72+159G>T (SH2D1A)
ENST00000698116.1:c.3G>T (SH2D1A) ENSP00000513572.1:p.Met1Ile
ENST00000698117.1:c.3G>T (SH2D1A) ENSP00000513573.1:p.Met1Ile
ENST00000698118.1:c.3G>T (SH2D1A) ENSP00000513574.1:p.Met1Ile
ENST00000371139.9:c.3G>T (SH2D1A) MANE Select ENSP00000360181.5:p.Met1Ile
ENST00000647259.1:c.3G>T (SH2D1A) ENSP00000494582.1:p.Met1Ile
ENST00000360027.4:c.3G>T (SH2D1A) ENSP00000353126.4:p.Met1Ile
ENST00000371139.8:c.3G>T (SH2D1A) ENSP00000360181.4:p.Met1Ile
ENST00000469481.1:n.454-65177G>T (STAG2)
ENST00000477673.2:c.3G>T (SH2D1A) ENSP00000477094.1:p.Met1Ile
ENST00000491950.5:n.57G>T (SH2D1A)
ENST00000494073.5:n.57G>T (SH2D1A)
ENST00000635645.1:n.499-19116G>T (SH2D1A)
NM_001114937.2:c.3G>T (SH2D1A) NP_001108409.1:p.Met1Ile
NM_002351.4:c.3G>T , LRG_106t1:c.3G>T (SH2D1A) NP_002342.1:p.Met1Ile
NM_002351.5:c.3G>T (SH2D1A) MANE Select NP_002342.1:p.Met1Ile
NM_001114937.3:c.3G>T (SH2D1A) NP_001108409.1:p.Met1Ile