Canonical Allele Identifier: CA2819652

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2833803G>A , CM000666.2:g.2833803G>A	GRCh38
NC_000004.11:g.2835530G>A , CM000666.1:g.2835530G>A	GRCh37
NC_000004.10:g.2805328G>A	NCBI36
NG_011609.1:g.45781G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.1655G>A MANE Select	NP_001116153.1:p.Arg552Gln
ENST00000503393.8:c.1655G>A MANE Select	ENSP00000422168.3:p.Arg552Gln
NM_001122681.1:c.1655G>A	NP_001116153.1:p.Arg552Gln
NM_001145855.1:c.1739G>A	NP_001139327.1:p.Arg580Gln
NM_001145855.2:c.1739G>A	NP_001139327.1:p.Arg580Gln
NM_001145856.1:c.1826G>A	NP_001139328.1:p.Arg609Gln
NM_001145856.2:c.1826G>A	NP_001139328.1:p.Arg609Gln
NM_003023.4:c.1655G>A	NP_003014.3:p.Arg552Gln
ENST00000356331.9:c.1655G>A	ENSP00000348685.5:p.Arg552Gln
ENST00000435136.6:c.1655G>A	ENSP00000403231.2:p.Arg552Gln
ENST00000435136.8:c.1739G>A	ENSP00000403231.3:p.Arg580Gln
ENST00000442312.6:c.1739G>A	ENSP00000388152.2:p.Arg580Gln
ENST00000452765.6:c.1655G>A	ENSP00000409746.2:p.Arg552Gln
ENST00000452765.7:c.304G>A
ENST00000503393.6:c.1826G>A	ENSP00000422168.2:p.Arg609Gln
ENST00000510204.5:n.3131G>A
ENST00000511747.5:c.1655G>A	ENSP00000424846.1:p.Arg552Gln
ENST00000511747.6:c.1826G>A	ENSP00000424846.2:p.Arg609Gln
ENST00000513069.1:c.709G>A
ENST00000515737.5:c.*1540G>A	ENSP00000422605.1:n.*1540G>A
ENST00000515802.5:n.1761G>A
XM_005247998.3:c.1664G>A	XP_005248055.1:p.Arg555Gln
XM_005247999.3:c.1655G>A	XP_005248056.1:p.Arg552Gln
XM_011513547.1:c.1826G>A	XP_011511849.1:p.Arg609Gln
XM_011513548.1:c.*138G>A	XP_011511850.1:n.*138G>A
XM_011513549.1:c.1655G>A	XP_011511851.1:p.Arg552Gln
XM_011513550.1:c.1655G>A	XP_011511852.1:p.Arg552Gln
XM_011513551.1:c.*138G>A	XP_011511853.1:n.*138G>A
XM_011513552.1:c.1484G>A	XP_011511854.1:p.Arg495Gln
XM_011513553.1:c.1292G>A	XP_011511855.1:p.Arg431Gln
XM_011513554.1:c.944G>A	XP_011511856.1:p.Arg315Gln
XM_011513555.1:c.*130G>A	XP_011511857.1:n.*130G>A
XM_011513556.1:c.*130G>A	XP_011511858.1:n.*130G>A
XR_924990.1:n.1728G>A