Canonical Allele Identifier: CA1167236

Gene: SH2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156809663C>G , CM000663.2:g.156809663C>G	GRCh38
NC_000001.10:g.156779455C>G , CM000663.1:g.156779455C>G	GRCh37
NC_000001.9:g.155046079C>G	NCBI36
NG_016849.1:g.12186G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003975.4:c.712G>C MANE Select	NP_003966.2:p.Glu238Gln
ENST00000368199.8:c.712G>C MANE Select	ENSP00000357182.3:p.Glu238Gln
NM_001161441.1:c.742G>C	NP_001154913.1:p.Glu248Gln
NM_001161441.2:c.742G>C	NP_001154913.1:p.Glu248Gln
NM_001161442.1:c.658G>C	NP_001154914.1:p.Glu220Gln
NM_001161442.2:c.658G>C	NP_001154914.1:p.Glu220Gln
NM_001161443.1:c.628G>C	NP_001154915.1:p.Glu210Gln
NM_001161443.2:c.628G>C	NP_001154915.1:p.Glu210Gln
NM_001161444.1:c.712G>C	NP_001154916.1:p.Glu238Gln
NM_001161444.2:c.712G>C	NP_001154916.1:p.Glu238Gln
NM_003975.3:c.712G>C	NP_003966.2:p.Glu238Gln
ENST00000368198.7:c.658G>C	ENSP00000357181.3:p.Glu220Gln
ENST00000368199.7:c.712G>C	ENSP00000357182.3:p.Glu238Gln
ENST00000392306.2:c.742G>C	ENSP00000376123.2:p.Glu248Gln
ENST00000468744.5:n.409G>C
ENST00000486350.1:n.779G>C
XM_006711615.1:c.730G>C	XP_006711678.1:p.Glu244Gln
XM_006711615.2:c.730G>C	XP_006711678.1:p.Glu244Gln
XM_011510113.1:c.718G>C	XP_011508415.1:p.Glu240Gln
XM_011510114.1:c.646G>C	XP_011508416.1:p.Glu216Gln
XM_011510115.1:c.730G>C	XP_011508417.1:p.Glu244Gln
XM_017002762.2:c.760G>C	XP_016858251.1:p.Glu254Gln
XM_017002763.1:c.748G>C	XP_016858252.1:p.Glu250Gln
XM_017002764.2:c.700G>C	XP_016858253.1:p.Glu234Gln
XM_017002765.1:c.688G>C	XP_016858254.1:p.Glu230Gln
XM_017002766.1:c.676G>C	XP_016858255.1:p.Glu226Gln
XM_017002767.1:c.760G>C	XP_016858256.1:p.Glu254Gln