Canonical Allele Identifier: CA10645918
Community Standard Title: NM_002351.5(SH2D1A):c.*862T>A
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124372253T>A , CM000685.2:g.124372253T>A GRCh38
NC_000023.10:g.123506103T>A , CM000685.1:g.123506103T>A GRCh37
NC_000023.9:g.123333784T>A NCBI36
NG_007464.1:g.30954T>A , LRG_106:g.30954T>A
NG_033796.2:g.416694T>A , LRG_782:g.416694T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002351.5:c.*862T>A (SH2D1A) MANE Select NP_002342.1:n.*862T>A
ENST00000371139.9:c.*862T>A (SH2D1A) MANE Select ENSP00000360181.5:n.*862T>A
NM_001114937.2:c.*862T>A (SH2D1A) NP_001108409.1:n.*862T>A
NM_001114937.3:c.*862T>A (SH2D1A) NP_001108409.1:n.*862T>A
NM_002351.4:c.*862T>A , LRG_106t1:c.*862T>A (SH2D1A) NP_002342.1:n.*862T>A
ENST00000360027.5:c.*862T>A (SH2D1A) ENSP00000353126.4:n.*862T>A
ENST00000371139.8:c.*862T>A (SH2D1A) ENSP00000360181.4:n.*862T>A
ENST00000469481.1:n.454-39569T>A (STAG2)
ENST00000635645.1:n.1610T>A (SH2D1A)
ENST00000647259.1:c.*1087T>A (SH2D1A) ENSP00000494582.1:n.*1087T>A
ENST00000647259.2:c.*1087T>A (SH2D1A) ENSP00000494582.1:n.*1087T>A
ENST00000698112.1:n.1555T>A (SH2D1A)
ENST00000698113.1:c.*862T>A (SH2D1A) ENSP00000513571.1:n.*862T>A
ENST00000698115.1:n.1184T>A (SH2D1A)
ENST00000698116.1:c.*862T>A (SH2D1A) ENSP00000513572.1:n.*862T>A
ENST00000698117.1:c.*963T>A (SH2D1A) ENSP00000513573.1:n.*963T>A
ENST00000698118.1:c.*155T>A (SH2D1A) ENSP00000513574.1:n.*155T>A
ENST00000698119.1:n.1548T>A (SH2D1A)
ENST00000698120.1:n.1086T>A (SH2D1A)