Canonical Allele Identifier: CA254207

Gene: SH3BP2

Linked Data

• ClinVar Variation Id: 7548
• ClinVar RCV Id: RCV000007984 ; RCV000486508
• dbSNP Id: rs121909146
• gnomAD v4: 4-2831582-C-G
• MyVariant Identifiers: chr4:g.2833309C>G (hg19) ; chr4:g.2831582C>G (hg38)
• PubMed: PMID:11381256 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2831582C>G , CM000666.2:g.2831582C>G	GRCh38
NC_000004.11:g.2833309C>G , CM000666.1:g.2833309C>G	GRCh37
NC_000004.10:g.2803107C>G	NCBI36
NG_011609.1:g.43560C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000435136.8:c.1337C>G	ENSP00000403231.3:p.Pro446Arg
ENST00000503393.8:c.1253C>G MANE Select	ENSP00000422168.3:p.Pro418Arg
ENST00000511747.6:c.1424C>G	ENSP00000424846.2:p.Pro475Arg
ENST00000356331.9:c.1253C>G	ENSP00000348685.5:p.Pro418Arg
ENST00000435136.6:c.1253C>G	ENSP00000403231.2:p.Pro418Arg
ENST00000442312.6:c.1337C>G	ENSP00000388152.2:p.Pro446Arg
ENST00000452765.6:c.1253C>G	ENSP00000409746.2:p.Pro418Arg
ENST00000503393.6:c.1424C>G	ENSP00000422168.2:p.Pro475Arg
ENST00000504450.1:n.550C>G
ENST00000510204.5:n.1730C>G
ENST00000511747.5:c.1253C>G	ENSP00000424846.1:p.Pro418Arg
ENST00000513069.1:c.363C>G
ENST00000515737.5:c.*1138C>G	ENSP00000422605.1:n.*1138C>G
ENST00000515802.5:n.1359C>G
NM_001122681.1:c.1253C>G	NP_001116153.1:p.Pro418Arg
NM_001145855.1:c.1337C>G	NP_001139327.1:p.Pro446Arg
NM_001145856.1:c.1424C>G	NP_001139328.1:p.Pro475Arg
NM_003023.4:c.1253C>G	NP_003014.3:p.Pro418Arg
XM_005247998.3:c.1262C>G	XP_005248055.1:p.Pro421Arg
XM_005247999.3:c.1253C>G	XP_005248056.1:p.Pro418Arg
XM_011513547.1:c.1424C>G	XP_011511849.1:p.Pro475Arg
XM_011513548.1:c.1253C>G	XP_011511850.1:p.Pro418Arg
XM_011513549.1:c.1253C>G	XP_011511851.1:p.Pro418Arg
XM_011513550.1:c.1253C>G	XP_011511852.1:p.Pro418Arg
XM_011513551.1:c.1253C>G	XP_011511853.1:p.Pro418Arg
XM_011513552.1:c.1082C>G	XP_011511854.1:p.Pro361Arg
XM_011513553.1:c.890C>G	XP_011511855.1:p.Pro297Arg
XM_011513554.1:c.598C>G	XP_011511856.1:p.Pro200Ala
XM_011513555.1:c.598C>G	XP_011511857.1:p.Pro200Ala
XM_011513556.1:c.598C>G	XP_011511858.1:p.Pro200Ala
XR_924990.1:n.1257C>G
NM_001122681.2:c.1253C>G MANE Select	NP_001116153.1:p.Pro418Arg
NM_001145855.2:c.1337C>G	NP_001139327.1:p.Pro446Arg
NM_001145856.2:c.1424C>G	NP_001139328.1:p.Pro475Arg