Canonical Allele Identifier: CA2819199

Gene: SH3BP2

Linked Data

• ClinVar Variation Id: 348577
• ClinVar RCV Id: RCV000379691 ; RCV003392216
• dbSNP Id: rs367984149
• ExAC: 4:2829050 G / A
• gnomAD v2: 4-2829050-G-A
• gnomAD v3: 4-2827323-G-A
• gnomAD v4: 4-2827323-G-A
• MyVariant Identifiers: chr4:g.2829050G>A (hg19) ; chr4:g.2827323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2827323G>A , CM000666.2:g.2827323G>A	GRCh38
NC_000004.11:g.2829050G>A , CM000666.1:g.2829050G>A	GRCh37
NC_000004.10:g.2798848G>A	NCBI36
NG_011609.1:g.39301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435136.8:c.601+5G>A	ENSP00000403231.3:n.601+5G>A
ENST00000503393.8:c.517+5G>A MANE Select	ENSP00000422168.3:n.517+5G>A
ENST00000511747.6:c.688+5G>A	ENSP00000424846.2:n.688+5G>A
ENST00000356331.9:c.517+5G>A	ENSP00000348685.5:n.517+5G>A
ENST00000435136.6:c.517+5G>A	ENSP00000403231.2:n.517+5G>A
ENST00000442312.6:c.601+5G>A	ENSP00000388152.2:n.601+5G>A
ENST00000452765.6:c.517+5G>A	ENSP00000409746.2:n.517+5G>A
ENST00000503393.6:c.688+5G>A	ENSP00000422168.2:n.688+5G>A
ENST00000504450.1:n.469+5G>A
ENST00000505941.5:n.535+5G>A
ENST00000508385.5:c.517+5G>A	ENSP00000424917.1:n.517+5G>A
ENST00000510204.5:n.994+5G>A
ENST00000511747.5:c.517+5G>A	ENSP00000424846.1:n.517+5G>A
ENST00000512014.5:c.517+5G>A	ENSP00000424105.1:n.517+5G>A
ENST00000515183.5:n.255+5G>A
ENST00000515737.5:c.*402+5G>A	ENSP00000422605.1:n.*402+5G>A
ENST00000515802.5:n.623+5G>A
NM_001122681.1:c.517+5G>A	NP_001116153.1:n.517+5G>A
NM_001145855.1:c.601+5G>A	NP_001139327.1:n.601+5G>A
NM_001145856.1:c.688+5G>A	NP_001139328.1:n.688+5G>A
NM_003023.4:c.517+5G>A	NP_003014.3:n.517+5G>A
XM_005247998.3:c.526+5G>A	XP_005248055.1:n.526+5G>A
XM_005247999.3:c.517+5G>A	XP_005248056.1:n.517+5G>A
XM_011513547.1:c.688+5G>A	XP_011511849.1:n.688+5G>A
XM_011513548.1:c.517+5G>A	XP_011511850.1:n.517+5G>A
XM_011513549.1:c.517+5G>A	XP_011511851.1:n.517+5G>A
XM_011513550.1:c.517+5G>A	XP_011511852.1:n.517+5G>A
XM_011513551.1:c.517+5G>A	XP_011511853.1:n.517+5G>A
XM_011513552.1:c.346+5G>A	XP_011511854.1:n.346+5G>A
XM_011513553.1:c.154+5G>A	XP_011511855.1:n.154+5G>A
XM_011513554.1:c.517+5G>A	XP_011511856.1:n.517+5G>A
XM_011513555.1:c.517+5G>A	XP_011511857.1:n.517+5G>A
XM_011513556.1:c.517+5G>A	XP_011511858.1:n.517+5G>A
XR_924990.1:n.521+5G>A
NM_001122681.2:c.517+5G>A MANE Select	NP_001116153.1:n.517+5G>A
NM_001145855.2:c.601+5G>A	NP_001139327.1:n.601+5G>A
NM_001145856.2:c.688+5G>A	NP_001139328.1:n.688+5G>A