Canonical Allele Identifier: CA2818931

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2822970G>A , CM000666.2:g.2822970G>A	GRCh38
NC_000004.11:g.2824697G>A , CM000666.1:g.2824697G>A	GRCh37
NC_000004.10:g.2794495G>A	NCBI36
NG_011609.1:g.34948G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.172G>A MANE Select	NP_001116153.1:p.Val58Ile
ENST00000503393.8:c.172G>A MANE Select	ENSP00000422168.3:p.Val58Ile
NM_001122681.1:c.172G>A	NP_001116153.1:p.Val58Ile
NM_001145855.1:c.256G>A	NP_001139327.1:p.Val86Ile
NM_001145855.2:c.256G>A	NP_001139327.1:p.Val86Ile
NM_001145856.1:c.343G>A	NP_001139328.1:p.Val115Ile
NM_001145856.2:c.343G>A	NP_001139328.1:p.Val115Ile
NM_003023.4:c.172G>A	NP_003014.3:p.Val58Ile
ENST00000356331.9:c.172G>A	ENSP00000348685.5:p.Val58Ile
ENST00000435136.6:c.172G>A	ENSP00000403231.2:p.Val58Ile
ENST00000435136.8:c.256G>A	ENSP00000403231.3:p.Val86Ile
ENST00000442312.6:c.256G>A	ENSP00000388152.2:p.Val86Ile
ENST00000452765.6:c.172G>A	ENSP00000409746.2:p.Val58Ile
ENST00000502260.5:c.172G>A	ENSP00000425537.1:p.Val58Ile
ENST00000503219.5:c.172G>A	ENSP00000422796.1:p.Val58Ile
ENST00000503393.6:c.343G>A	ENSP00000422168.2:p.Val115Ile
ENST00000504294.5:c.172G>A	ENSP00000423275.1:p.Val58Ile
ENST00000506932.1:n.121G>A
ENST00000508385.5:c.172G>A	ENSP00000424917.1:p.Val58Ile
ENST00000509677.5:n.531G>A
ENST00000510074.5:n.280G>A
ENST00000511185.5:n.353G>A
ENST00000511237.5:n.280G>A
ENST00000511663.5:n.227G>A
ENST00000511747.5:c.172G>A	ENSP00000424846.1:p.Val58Ile
ENST00000511747.6:c.343G>A	ENSP00000424846.2:p.Val115Ile
ENST00000512014.5:c.172G>A	ENSP00000424105.1:p.Val58Ile
ENST00000512131.5:n.243G>A
ENST00000513020.5:c.172G>A	ENSP00000424072.1:p.Val58Ile
ENST00000513095.5:c.172G>A	ENSP00000423823.1:p.Val58Ile
ENST00000515737.5:c.172G>A	ENSP00000422605.1:p.Val58Ile
XM_005247998.3:c.181G>A	XP_005248055.1:p.Val61Ile
XM_005247999.3:c.172G>A	XP_005248056.1:p.Val58Ile
XM_011513547.1:c.343G>A	XP_011511849.1:p.Val115Ile
XM_011513548.1:c.172G>A	XP_011511850.1:p.Val58Ile
XM_011513549.1:c.172G>A	XP_011511851.1:p.Val58Ile
XM_011513550.1:c.172G>A	XP_011511852.1:p.Val58Ile
XM_011513551.1:c.172G>A	XP_011511853.1:p.Val58Ile
XM_011513552.1:c.-175G>A	XP_011511854.1:n.-175G>A
XM_011513553.1:c.-587G>A	XP_011511855.1:n.-587G>A
XM_011513554.1:c.172G>A	XP_011511856.1:p.Val58Ile
XM_011513555.1:c.172G>A	XP_011511857.1:p.Val58Ile
XM_011513556.1:c.172G>A	XP_011511858.1:p.Val58Ile
XR_924990.1:n.176G>A