Canonical Allele Identifier: CA255592
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10899
ClinVar RCV Id: RCV000011646
dbSNP Id: rs111033628

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124365795C>T , CM000685.2:g.124365795C>T GRCh38
NC_000023.10:g.123499645C>T , CM000685.1:g.123499645C>T GRCh37
NC_000023.9:g.123327326C>T NCBI36
NG_007464.1:g.24496C>T , LRG_106:g.24496C>T
NG_033796.2:g.410236C>T , LRG_782:g.410236C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360027.5:c.172C>T (SH2D1A) ENSP00000353126.4:p.Gln58Ter
ENST00000647259.2:c.172C>T (SH2D1A) ENSP00000494582.1:p.Gln58Ter
ENST00000698112.1:n.533C>T (SH2D1A)
ENST00000698113.1:c.172C>T (SH2D1A) ENSP00000513571.1:p.Gln58Ter
ENST00000698114.1:n.117-4436C>T (SH2D1A)
ENST00000698115.1:n.107C>T (SH2D1A)
ENST00000698116.1:c.172C>T (SH2D1A) ENSP00000513572.1:p.Gln58Ter
ENST00000698117.1:c.172C>T (SH2D1A) ENSP00000513573.1:p.Gln58Ter
ENST00000698118.1:c.172C>T (SH2D1A) ENSP00000513574.1:p.Gln58Ter
ENST00000698119.1:n.471C>T (SH2D1A)
ENST00000371139.9:c.172C>T (SH2D1A) MANE Select ENSP00000360181.5:p.Gln58Ter
ENST00000647259.1:c.172C>T (SH2D1A) ENSP00000494582.1:p.Gln58Ter
ENST00000360027.4:c.172C>T (SH2D1A) ENSP00000353126.4:p.Gln58Ter
ENST00000371139.8:c.172C>T (SH2D1A) ENSP00000360181.4:p.Gln58Ter
ENST00000469481.1:n.454-46027C>T (STAG2)
ENST00000477673.2:c.150C>T (SH2D1A) ENSP00000477094.1:p.Pro50=
ENST00000491950.5:n.192-4381C>T (SH2D1A)
ENST00000494073.5:n.192-4436C>T (SH2D1A)
ENST00000635645.1:n.533C>T (SH2D1A)
NM_001114937.2:c.172C>T (SH2D1A) NP_001108409.1:p.Gln58Ter
NM_002351.4:c.172C>T , LRG_106t1:c.172C>T (SH2D1A) NP_002342.1:p.Gln58Ter
NM_002351.5:c.172C>T (SH2D1A) MANE Select NP_002342.1:p.Gln58Ter
NM_001114937.3:c.172C>T (SH2D1A) NP_001108409.1:p.Gln58Ter