Canonical Allele Identifier: CA356057578

Gene: SH3BP2

Linked Data

• ClinVar Variation Id: 2033942
• ClinVar RCV Id: RCV002885323
• gnomAD v4: 4-2831587-G-T
• MyVariant Identifiers: chr4:g.2833314G>T (hg19) ; chr4:g.2831587G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435136.8:c.1342G>T	ENSP00000403231.3:p.Gly448Trp
ENST00000503393.8:c.1258G>T MANE Select	ENSP00000422168.3:p.Gly420Trp
ENST00000511747.6:c.1429G>T	ENSP00000424846.2:p.Gly477Trp
ENST00000356331.9:c.1258G>T	ENSP00000348685.5:p.Gly420Trp
ENST00000435136.6:c.1258G>T	ENSP00000403231.2:p.Gly420Trp
ENST00000442312.6:c.1342G>T	ENSP00000388152.2:p.Gly448Trp
ENST00000452765.6:c.1258G>T	ENSP00000409746.2:p.Gly420Trp
ENST00000503393.6:c.1429G>T	ENSP00000422168.2:p.Gly477Trp
ENST00000504450.1:n.555G>T
ENST00000510204.5:n.1735G>T
ENST00000511747.5:c.1258G>T	ENSP00000424846.1:p.Gly420Trp
ENST00000513069.1:c.368G>T
ENST00000515737.5:c.*1143G>T	ENSP00000422605.1:n.*1143G>T
ENST00000515802.5:n.1364G>T
NM_001122681.1:c.1258G>T	NP_001116153.1:p.Gly420Trp
NM_001145855.1:c.1342G>T	NP_001139327.1:p.Gly448Trp
NM_001145856.1:c.1429G>T	NP_001139328.1:p.Gly477Trp
NM_003023.4:c.1258G>T	NP_003014.3:p.Gly420Trp
XM_005247998.3:c.1267G>T	XP_005248055.1:p.Gly423Trp
XM_005247999.3:c.1258G>T	XP_005248056.1:p.Gly420Trp
XM_011513547.1:c.1429G>T	XP_011511849.1:p.Gly477Trp
XM_011513548.1:c.1258G>T	XP_011511850.1:p.Gly420Trp
XM_011513549.1:c.1258G>T	XP_011511851.1:p.Gly420Trp
XM_011513550.1:c.1258G>T	XP_011511852.1:p.Gly420Trp
XM_011513551.1:c.1258G>T	XP_011511853.1:p.Gly420Trp
XM_011513552.1:c.1087G>T	XP_011511854.1:p.Gly363Trp
XM_011513553.1:c.895G>T	XP_011511855.1:p.Gly299Trp
XM_011513554.1:c.603G>T	XP_011511856.1:p.Met201Ile
XM_011513555.1:c.603G>T	XP_011511857.1:p.Met201Ile
XM_011513556.1:c.603G>T	XP_011511858.1:p.Met201Ile
XR_924990.1:n.1262G>T
NM_001122681.2:c.1258G>T MANE Select	NP_001116153.1:p.Gly420Trp
NM_001145855.2:c.1342G>T	NP_001139327.1:p.Gly448Trp
NM_001145856.2:c.1429G>T	NP_001139328.1:p.Gly477Trp