Canonical Allele Identifier: CA254211

Gene: SH3BP2

Linked Data

• ClinVar Variation Id: 7552
• ClinVar RCV Id: RCV000007988
• dbSNP Id: rs28938170
• MyVariant Identifiers: chr4:g.2833314G>C (hg19) ; chr4:g.2831587G>C (hg38)
• PubMed: PMID:11381256 ; PMID:12900899

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2831587G>C , CM000666.2:g.2831587G>C	GRCh38
NC_000004.11:g.2833314G>C , CM000666.1:g.2833314G>C	GRCh37
NC_000004.10:g.2803112G>C	NCBI36
NG_011609.1:g.43565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435136.8:c.1342G>C	ENSP00000403231.3:p.Gly448Arg
ENST00000503393.8:c.1258G>C MANE Select	ENSP00000422168.3:p.Gly420Arg
ENST00000511747.6:c.1429G>C	ENSP00000424846.2:p.Gly477Arg
ENST00000356331.9:c.1258G>C	ENSP00000348685.5:p.Gly420Arg
ENST00000435136.6:c.1258G>C	ENSP00000403231.2:p.Gly420Arg
ENST00000442312.6:c.1342G>C	ENSP00000388152.2:p.Gly448Arg
ENST00000452765.6:c.1258G>C	ENSP00000409746.2:p.Gly420Arg
ENST00000503393.6:c.1429G>C	ENSP00000422168.2:p.Gly477Arg
ENST00000504450.1:n.555G>C
ENST00000510204.5:n.1735G>C
ENST00000511747.5:c.1258G>C	ENSP00000424846.1:p.Gly420Arg
ENST00000513069.1:c.368G>C
ENST00000515737.5:c.*1143G>C	ENSP00000422605.1:n.*1143G>C
ENST00000515802.5:n.1364G>C
NM_001122681.1:c.1258G>C	NP_001116153.1:p.Gly420Arg
NM_001145855.1:c.1342G>C	NP_001139327.1:p.Gly448Arg
NM_001145856.1:c.1429G>C	NP_001139328.1:p.Gly477Arg
NM_003023.4:c.1258G>C	NP_003014.3:p.Gly420Arg
XM_005247998.3:c.1267G>C	XP_005248055.1:p.Gly423Arg
XM_005247999.3:c.1258G>C	XP_005248056.1:p.Gly420Arg
XM_011513547.1:c.1429G>C	XP_011511849.1:p.Gly477Arg
XM_011513548.1:c.1258G>C	XP_011511850.1:p.Gly420Arg
XM_011513549.1:c.1258G>C	XP_011511851.1:p.Gly420Arg
XM_011513550.1:c.1258G>C	XP_011511852.1:p.Gly420Arg
XM_011513551.1:c.1258G>C	XP_011511853.1:p.Gly420Arg
XM_011513552.1:c.1087G>C	XP_011511854.1:p.Gly363Arg
XM_011513553.1:c.895G>C	XP_011511855.1:p.Gly299Arg
XM_011513554.1:c.603G>C	XP_011511856.1:p.Met201Ile
XM_011513555.1:c.603G>C	XP_011511857.1:p.Met201Ile
XM_011513556.1:c.603G>C	XP_011511858.1:p.Met201Ile
XR_924990.1:n.1262G>C
NM_001122681.2:c.1258G>C MANE Select	NP_001116153.1:p.Gly420Arg
NM_001145855.2:c.1342G>C	NP_001139327.1:p.Gly448Arg
NM_001145856.2:c.1429G>C	NP_001139328.1:p.Gly477Arg