Canonical Allele Identifier: CA2579695797

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124370085-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124370085T>C , CM000685.2:g.124370085T>C	GRCh38
NC_000023.10:g.123503935T>C , CM000685.1:g.123503935T>C	GRCh37
NC_000023.9:g.123331616T>C	NCBI36
NG_007464.1:g.28786T>C , LRG_106:g.28786T>C
NG_033796.2:g.414526T>C , LRG_782:g.414526T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360027.5:c.202-91T>C (SH2D1A)	ENSP00000353126.4:n.202-91T>C
ENST00000647259.2:c.*40-91T>C (SH2D1A)	ENSP00000494582.1:n.*40-91T>C
ENST00000698112.1:n.563-146T>C (SH2D1A)
ENST00000698113.1:c.202-91T>C (SH2D1A)	ENSP00000513571.1:n.202-91T>C
ENST00000698114.1:n.117-146T>C (SH2D1A)
ENST00000698115.1:n.137-91T>C (SH2D1A)
ENST00000698116.1:c.202-91T>C (SH2D1A)	ENSP00000513572.1:n.202-91T>C
ENST00000698117.1:c.202-146T>C (SH2D1A)	ENSP00000513573.1:n.202-146T>C
ENST00000698118.1:c.202-91T>C (SH2D1A)	ENSP00000513574.1:n.202-91T>C
ENST00000698119.1:n.501-91T>C (SH2D1A)
ENST00000698120.1:n.35T>C (SH2D1A)
ENST00000371139.9:c.202-91T>C (SH2D1A) MANE Select	ENSP00000360181.5:n.202-91T>C
ENST00000647259.1:c.*40-91T>C (SH2D1A)	ENSP00000494582.1:n.*40-91T>C
ENST00000360027.4:c.202-91T>C (SH2D1A)	ENSP00000353126.4:n.202-91T>C
ENST00000371139.8:c.202-91T>C (SH2D1A)	ENSP00000360181.4:n.202-91T>C
ENST00000469481.1:n.454-41737T>C (STAG2)
ENST00000477673.2:c.180-146T>C (SH2D1A)	ENSP00000477094.1:n.180-146T>C
ENST00000491950.5:n.192-91T>C (SH2D1A)
ENST00000494073.5:n.192-146T>C (SH2D1A)
ENST00000635645.1:n.563-91T>C (SH2D1A)
NM_001114937.2:c.202-91T>C (SH2D1A)	NP_001108409.1:n.202-91T>C
NM_002351.4:c.202-91T>C , LRG_106t1:c.202-91T>C (SH2D1A)	NP_002342.1:n.202-91T>C
NM_002351.5:c.202-91T>C (SH2D1A) MANE Select	NP_002342.1:n.202-91T>C
NM_001114937.3:c.202-91T>C (SH2D1A)	NP_001108409.1:n.202-91T>C