Canonical Allele Identifier: CA2579695732
Gene: SH2D1A HGNC NCBI
STAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.124346563G>T , CM000685.2:g.124346563G>T GRCh38
NC_000023.10:g.123480413G>T , CM000685.1:g.123480413G>T GRCh37
NC_000023.9:g.123308094G>T NCBI36
NG_007464.1:g.5264G>T , LRG_106:g.5264G>T
NG_033796.2:g.391004G>T , LRG_782:g.391004G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360027.5:c.-80G>T (SH2D1A) ENSP00000353126.4:n.-80G>T
ENST00000647259.2:c.-80G>T (SH2D1A) ENSP00000494582.1:n.-80G>T
ENST00000698112.1:n.499-19198G>T (SH2D1A)
ENST00000698113.1:c.-80G>T (SH2D1A) ENSP00000513571.1:n.-80G>T
ENST00000698114.1:n.116+77G>T (SH2D1A)
ENST00000698115.1:n.72+77G>T (SH2D1A)
ENST00000698116.1:c.-58-22G>T (SH2D1A) ENSP00000513572.1:n.-58-22G>T
ENST00000698117.1:c.-80G>T (SH2D1A) ENSP00000513573.1:n.-80G>T
ENST00000371139.9:c.-80G>T (SH2D1A) MANE Select ENSP00000360181.5:n.-80G>T
ENST00000647259.1:c.-80G>T (SH2D1A) ENSP00000494582.1:n.-80G>T
ENST00000360027.4:c.-80G>T (SH2D1A) ENSP00000353126.4:n.-80G>T
ENST00000371139.8:c.-80G>T (SH2D1A) ENSP00000360181.4:n.-80G>T
ENST00000469481.1:n.454-65259G>T (STAG2)
ENST00000635645.1:n.499-19198G>T (SH2D1A)
NM_001114937.2:c.-80G>T (SH2D1A) NP_001108409.1:n.-80G>T
NM_002351.4:c.-80G>T , LRG_106t1:c.-80G>T (SH2D1A) NP_002342.1:n.-80G>T
NM_002351.5:c.-80G>T (SH2D1A) MANE Select NP_002342.1:n.-80G>T
NM_001114937.3:c.-80G>T (SH2D1A) NP_001108409.1:n.-80G>T