Canonical Allele Identifier: CA414122194

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346659-T-C
• MyVariant Identifiers: chrX:g.123480509T>C (hg19) ; chrX:g.124346659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346659T>C , CM000685.2:g.124346659T>C	GRCh38
NC_000023.10:g.123480509T>C , CM000685.1:g.123480509T>C	GRCh37
NC_000023.9:g.123308190T>C	NCBI36
NG_007464.1:g.5360T>C , LRG_106:g.5360T>C
NG_033796.2:g.391100T>C , LRG_782:g.391100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360027.5:c.17T>C (SH2D1A)	ENSP00000353126.4:p.Val6Ala
ENST00000647259.2:c.17T>C (SH2D1A)	ENSP00000494582.1:p.Val6Ala
ENST00000698112.1:n.499-19102T>C (SH2D1A)
ENST00000698113.1:c.17T>C (SH2D1A)	ENSP00000513571.1:p.Val6Ala
ENST00000698114.1:n.116+173T>C (SH2D1A)
ENST00000698115.1:n.72+173T>C (SH2D1A)
ENST00000698116.1:c.17T>C (SH2D1A)	ENSP00000513572.1:p.Val6Ala
ENST00000698117.1:c.17T>C (SH2D1A)	ENSP00000513573.1:p.Val6Ala
ENST00000698118.1:c.17T>C (SH2D1A)	ENSP00000513574.1:p.Val6Ala
ENST00000371139.9:c.17T>C (SH2D1A) MANE Select	ENSP00000360181.5:p.Val6Ala
ENST00000647259.1:c.17T>C (SH2D1A)	ENSP00000494582.1:p.Val6Ala
ENST00000360027.4:c.17T>C (SH2D1A)	ENSP00000353126.4:p.Val6Ala
ENST00000371139.8:c.17T>C (SH2D1A)	ENSP00000360181.4:p.Val6Ala
ENST00000469481.1:n.454-65163T>C (STAG2)
ENST00000477673.2:c.17T>C (SH2D1A)	ENSP00000477094.1:p.Val6Ala
ENST00000491950.5:n.71T>C (SH2D1A)
ENST00000494073.5:n.71T>C (SH2D1A)
ENST00000635645.1:n.499-19102T>C (SH2D1A)
NM_001114937.2:c.17T>C (SH2D1A)	NP_001108409.1:p.Val6Ala
NM_002351.4:c.17T>C , LRG_106t1:c.17T>C (SH2D1A)	NP_002342.1:p.Val6Ala
NM_002351.5:c.17T>C (SH2D1A) MANE Select	NP_002342.1:p.Val6Ala
NM_001114937.3:c.17T>C (SH2D1A)	NP_001108409.1:p.Val6Ala