Canonical Allele Identifier: CA356056447

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2829843G>C , CM000666.2:g.2829843G>C	GRCh38
NC_000004.11:g.2831570G>C , CM000666.1:g.2831570G>C	GRCh37
NC_000004.10:g.2801368G>C	NCBI36
NG_011609.1:g.41821G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.937G>C MANE Select	NP_001116153.1:p.Gly313Arg
ENST00000503393.8:c.937G>C MANE Select	ENSP00000422168.3:p.Gly313Arg
NM_001122681.1:c.937G>C	NP_001116153.1:p.Gly313Arg
NM_001145855.1:c.1021G>C	NP_001139327.1:p.Gly341Arg
NM_001145855.2:c.1021G>C	NP_001139327.1:p.Gly341Arg
NM_001145856.1:c.1108G>C	NP_001139328.1:p.Gly370Arg
NM_001145856.2:c.1108G>C	NP_001139328.1:p.Gly370Arg
NM_003023.4:c.937G>C	NP_003014.3:p.Gly313Arg
ENST00000356331.9:c.937G>C	ENSP00000348685.5:p.Gly313Arg
ENST00000435136.6:c.937G>C	ENSP00000403231.2:p.Gly313Arg
ENST00000435136.8:c.1021G>C	ENSP00000403231.3:p.Gly341Arg
ENST00000442312.6:c.1021G>C	ENSP00000388152.2:p.Gly341Arg
ENST00000452765.6:c.937G>C	ENSP00000409746.2:p.Gly313Arg
ENST00000503393.6:c.1108G>C	ENSP00000422168.2:p.Gly370Arg
ENST00000504450.1:n.539-1728G>C
ENST00000510204.5:n.1414G>C
ENST00000511747.5:c.937G>C	ENSP00000424846.1:p.Gly313Arg
ENST00000511747.6:c.1108G>C	ENSP00000424846.2:p.Gly370Arg
ENST00000513069.1:c.47G>C
ENST00000515737.5:c.*822G>C	ENSP00000422605.1:n.*822G>C
ENST00000515802.5:n.1043G>C
XM_005247998.3:c.946G>C	XP_005248055.1:p.Gly316Arg
XM_005247999.3:c.937G>C	XP_005248056.1:p.Gly313Arg
XM_011513547.1:c.1108G>C	XP_011511849.1:p.Gly370Arg
XM_011513548.1:c.937G>C	XP_011511850.1:p.Gly313Arg
XM_011513549.1:c.937G>C	XP_011511851.1:p.Gly313Arg
XM_011513550.1:c.937G>C	XP_011511852.1:p.Gly313Arg
XM_011513551.1:c.937G>C	XP_011511853.1:p.Gly313Arg
XM_011513552.1:c.766G>C	XP_011511854.1:p.Gly256Arg
XM_011513553.1:c.574G>C	XP_011511855.1:p.Gly192Arg
XM_011513554.1:c.587-1728G>C	XP_011511856.1:n.587-1728G>C
XM_011513555.1:c.587-1728G>C	XP_011511857.1:n.587-1728G>C
XM_011513556.1:c.587-1728G>C	XP_011511858.1:n.587-1728G>C
XR_924990.1:n.941G>C