Canonical Allele Identifier: CA518122663

Gene: SH2D1A STAG2

Linked Data

• dbSNP Id: rs2147519448
• MyVariant Identifiers: chrX:g.123480567G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346717G>A , CM000685.2:g.124346717G>A	GRCh38
NC_000023.10:g.123480567G>A , CM000685.1:g.123480567G>A	GRCh37
NC_000023.9:g.123308248G>A	NCBI36
NG_007464.1:g.5418G>A , LRG_106:g.5418G>A
NG_033796.2:g.391158G>A , LRG_782:g.391158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.75G>A (SH2D1A)	ENSP00000353126.4:p.Leu25=
ENST00000647259.2:c.75G>A (SH2D1A)	ENSP00000494582.1:p.Leu25=
ENST00000698112.1:n.499-19044G>A (SH2D1A)
ENST00000698113.1:c.75G>A (SH2D1A)	ENSP00000513571.1:p.Leu25=
ENST00000698114.1:n.116+231G>A (SH2D1A)
ENST00000698115.1:n.72+231G>A (SH2D1A)
ENST00000698116.1:c.75G>A (SH2D1A)	ENSP00000513572.1:p.Leu25=
ENST00000698117.1:c.75G>A (SH2D1A)	ENSP00000513573.1:p.Leu25=
ENST00000698118.1:c.75G>A (SH2D1A)	ENSP00000513574.1:p.Leu25=
ENST00000371139.9:c.75G>A (SH2D1A) MANE Select	ENSP00000360181.5:p.Leu25=
ENST00000647259.1:c.75G>A (SH2D1A)	ENSP00000494582.1:p.Leu25=
ENST00000360027.4:c.75G>A (SH2D1A)	ENSP00000353126.4:p.Leu25=
ENST00000371139.8:c.75G>A (SH2D1A)	ENSP00000360181.4:p.Leu25=
ENST00000469481.1:n.454-65105G>A (STAG2)
ENST00000477673.2:c.75G>A (SH2D1A)	ENSP00000477094.1:p.Leu25=
ENST00000491950.5:n.129G>A (SH2D1A)
ENST00000494073.5:n.129G>A (SH2D1A)
ENST00000635645.1:n.499-19044G>A (SH2D1A)
NM_001114937.2:c.75G>A (SH2D1A)	NP_001108409.1:p.Leu25=
NM_002351.4:c.75G>A , LRG_106t1:c.75G>A (SH2D1A)	NP_002342.1:p.Leu25=
NM_002351.5:c.75G>A (SH2D1A) MANE Select	NP_002342.1:p.Leu25=
NM_001114937.3:c.75G>A (SH2D1A)	NP_001108409.1:p.Leu25=