Canonical Allele Identifier: CA2579695796

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124370079-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124370079C>A , CM000685.2:g.124370079C>A	GRCh38
NC_000023.10:g.123503929C>A , CM000685.1:g.123503929C>A	GRCh37
NC_000023.9:g.123331610C>A	NCBI36
NG_007464.1:g.28780C>A , LRG_106:g.28780C>A
NG_033796.2:g.414520C>A , LRG_782:g.414520C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360027.5:c.202-97C>A (SH2D1A)	ENSP00000353126.4:n.202-97C>A
ENST00000647259.2:c.*40-97C>A (SH2D1A)	ENSP00000494582.1:n.*40-97C>A
ENST00000698112.1:n.563-152C>A (SH2D1A)
ENST00000698113.1:c.202-97C>A (SH2D1A)	ENSP00000513571.1:n.202-97C>A
ENST00000698114.1:n.117-152C>A (SH2D1A)
ENST00000698115.1:n.137-97C>A (SH2D1A)
ENST00000698116.1:c.202-97C>A (SH2D1A)	ENSP00000513572.1:n.202-97C>A
ENST00000698117.1:c.202-152C>A (SH2D1A)	ENSP00000513573.1:n.202-152C>A
ENST00000698118.1:c.202-97C>A (SH2D1A)	ENSP00000513574.1:n.202-97C>A
ENST00000698119.1:n.501-97C>A (SH2D1A)
ENST00000698120.1:n.29C>A (SH2D1A)
ENST00000371139.9:c.202-97C>A (SH2D1A) MANE Select	ENSP00000360181.5:n.202-97C>A
ENST00000647259.1:c.*40-97C>A (SH2D1A)	ENSP00000494582.1:n.*40-97C>A
ENST00000360027.4:c.202-97C>A (SH2D1A)	ENSP00000353126.4:n.202-97C>A
ENST00000371139.8:c.202-97C>A (SH2D1A)	ENSP00000360181.4:n.202-97C>A
ENST00000469481.1:n.454-41743C>A (STAG2)
ENST00000477673.2:c.180-152C>A (SH2D1A)	ENSP00000477094.1:n.180-152C>A
ENST00000491950.5:n.192-97C>A (SH2D1A)
ENST00000494073.5:n.192-152C>A (SH2D1A)
ENST00000635645.1:n.563-97C>A (SH2D1A)
NM_001114937.2:c.202-97C>A (SH2D1A)	NP_001108409.1:n.202-97C>A
NM_002351.4:c.202-97C>A , LRG_106t1:c.202-97C>A (SH2D1A)	NP_002342.1:n.202-97C>A
NM_002351.5:c.202-97C>A (SH2D1A) MANE Select	NP_002342.1:n.202-97C>A
NM_001114937.3:c.202-97C>A (SH2D1A)	NP_001108409.1:n.202-97C>A