Canonical Allele Identifier: CA2819068

Gene: SH3BP2

Linked Data

• ClinVar Variation Id: 258896
• ClinVar RCV Id: RCV000251602 ; RCV000369852 ; RCV001689839
• dbSNP Id: rs16843413
• ExAC: 4:2826912 C / G
• gnomAD v2: 4-2826912-C-G
• gnomAD v3: 4-2825185-C-G
• gnomAD v4: 4-2825185-C-G
• MyVariant Identifiers: chr4:g.2826912C>G (hg19) ; chr4:g.2825185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2825185C>G , CM000666.2:g.2825185C>G	GRCh38
NC_000004.11:g.2826912C>G , CM000666.1:g.2826912C>G	GRCh37
NC_000004.10:g.2796710C>G	NCBI36
NG_011609.1:g.37163C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000435136.8:c.501C>G	ENSP00000403231.3:p.Pro167=
ENST00000503393.8:c.417C>G MANE Select	ENSP00000422168.3:p.Pro139=
ENST00000511747.6:c.588C>G	ENSP00000424846.2:p.Pro196=
ENST00000356331.9:c.417C>G	ENSP00000348685.5:p.Pro139=
ENST00000435136.6:c.417C>G	ENSP00000403231.2:p.Pro139=
ENST00000442312.6:c.501C>G	ENSP00000388152.2:p.Pro167=
ENST00000452765.6:c.417C>G	ENSP00000409746.2:p.Pro139=
ENST00000502260.5:c.417C>G	ENSP00000425537.1:p.Pro139=
ENST00000503219.5:c.417C>G	ENSP00000422796.1:p.Pro139=
ENST00000503393.6:c.588C>G	ENSP00000422168.2:p.Pro196=
ENST00000504294.5:c.417C>G	ENSP00000423275.1:p.Pro139=
ENST00000505941.5:n.435C>G
ENST00000508385.5:c.417C>G	ENSP00000424917.1:p.Pro139=
ENST00000511185.5:n.993C>G
ENST00000511663.5:n.867C>G
ENST00000511747.5:c.417C>G	ENSP00000424846.1:p.Pro139=
ENST00000512014.5:c.417C>G	ENSP00000424105.1:p.Pro139=
ENST00000513020.5:c.*298C>G	ENSP00000424072.1:n.*298C>G
ENST00000515183.5:n.155C>G
ENST00000515737.5:c.*302C>G	ENSP00000422605.1:n.*302C>G
NM_001122681.1:c.417C>G	NP_001116153.1:p.Pro139=
NM_001145855.1:c.501C>G	NP_001139327.1:p.Pro167=
NM_001145856.1:c.588C>G	NP_001139328.1:p.Pro196=
NM_003023.4:c.417C>G	NP_003014.3:p.Pro139=
XM_005247998.3:c.426C>G	XP_005248055.1:p.Pro142=
XM_005247999.3:c.417C>G	XP_005248056.1:p.Pro139=
XM_011513547.1:c.588C>G	XP_011511849.1:p.Pro196=
XM_011513548.1:c.417C>G	XP_011511850.1:p.Pro139=
XM_011513549.1:c.417C>G	XP_011511851.1:p.Pro139=
XM_011513550.1:c.417C>G	XP_011511852.1:p.Pro139=
XM_011513551.1:c.417C>G	XP_011511853.1:p.Pro139=
XM_011513552.1:c.246C>G	XP_011511854.1:p.Pro82=
XM_011513553.1:c.54C>G	XP_011511855.1:p.Pro18=
XM_011513554.1:c.417C>G	XP_011511856.1:p.Pro139=
XM_011513555.1:c.417C>G	XP_011511857.1:p.Pro139=
XM_011513556.1:c.417C>G	XP_011511858.1:p.Pro139=
XR_924990.1:n.421C>G
NM_001122681.2:c.417C>G MANE Select	NP_001116153.1:p.Pro139=
NM_001145855.2:c.501C>G	NP_001139327.1:p.Pro167=
NM_001145856.2:c.588C>G	NP_001139328.1:p.Pro196=