Canonical Allele Identifier: CA342929660

Gene: SH2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156813891A>G , CM000663.2:g.156813891A>G	GRCh38
NC_000001.10:g.156783683A>G , CM000663.1:g.156783683A>G	GRCh37
NC_000001.9:g.155050307A>G	NCBI36
NG_007493.1:g.3142A>G , LRG_261:g.3142A>G
NG_016849.1:g.7958T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003975.4:c.524T>C MANE Select	NP_003966.2:p.Leu175Pro
ENST00000368199.8:c.524T>C MANE Select	ENSP00000357182.3:p.Leu175Pro
NM_001161441.1:c.554T>C	NP_001154913.1:p.Leu185Pro
NM_001161441.2:c.554T>C	NP_001154913.1:p.Leu185Pro
NM_001161442.1:c.470T>C	NP_001154914.1:p.Leu157Pro
NM_001161442.2:c.470T>C	NP_001154914.1:p.Leu157Pro
NM_001161443.1:c.440T>C	NP_001154915.1:p.Leu147Pro
NM_001161443.2:c.440T>C	NP_001154915.1:p.Leu147Pro
NM_001161444.1:c.524T>C	NP_001154916.1:p.Leu175Pro
NM_001161444.2:c.524T>C	NP_001154916.1:p.Leu175Pro
NM_003975.3:c.524T>C	NP_003966.2:p.Leu175Pro
ENST00000368198.7:c.470T>C	ENSP00000357181.3:p.Leu157Pro
ENST00000368199.7:c.524T>C	ENSP00000357182.3:p.Leu175Pro
ENST00000392306.2:c.554T>C	ENSP00000376123.2:p.Leu185Pro
ENST00000468744.5:n.221T>C
ENST00000486350.1:n.591T>C
XM_006711615.1:c.542T>C	XP_006711678.1:p.Leu181Pro
XM_006711615.2:c.542T>C	XP_006711678.1:p.Leu181Pro
XM_011510113.1:c.530T>C	XP_011508415.1:p.Leu177Pro
XM_011510114.1:c.458T>C	XP_011508416.1:p.Leu153Pro
XM_011510115.1:c.542T>C	XP_011508417.1:p.Leu181Pro
XM_017002762.2:c.572T>C	XP_016858251.1:p.Leu191Pro
XM_017002763.1:c.560T>C	XP_016858252.1:p.Leu187Pro
XM_017002764.2:c.512T>C	XP_016858253.1:p.Leu171Pro
XM_017002765.1:c.500T>C	XP_016858254.1:p.Leu167Pro
XM_017002766.1:c.488T>C	XP_016858255.1:p.Leu163Pro
XM_017002767.1:c.572T>C	XP_016858256.1:p.Leu191Pro