Canonical Allele Identifier: CA2819562

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2832406G>A , CM000666.2:g.2832406G>A	GRCh38
NC_000004.11:g.2834133G>A , CM000666.1:g.2834133G>A	GRCh37
NC_000004.10:g.2803931G>A	NCBI36
NG_011609.1:g.44384G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.1482G>A MANE Select	NP_001116153.1:p.Ser494=
ENST00000503393.8:c.1482G>A MANE Select	ENSP00000422168.3:p.Ser494=
NM_001122681.1:c.1482G>A	NP_001116153.1:p.Ser494=
NM_001145855.1:c.1566G>A	NP_001139327.1:p.Ser522=
NM_001145855.2:c.1566G>A	NP_001139327.1:p.Ser522=
NM_001145856.1:c.1653G>A	NP_001139328.1:p.Ser551=
NM_001145856.2:c.1653G>A	NP_001139328.1:p.Ser551=
NM_003023.4:c.1482G>A	NP_003014.3:p.Ser494=
ENST00000356331.9:c.1482G>A	ENSP00000348685.5:p.Ser494=
ENST00000435136.6:c.1482G>A	ENSP00000403231.2:p.Ser494=
ENST00000435136.8:c.1566G>A	ENSP00000403231.3:p.Ser522=
ENST00000442312.6:c.1566G>A	ENSP00000388152.2:p.Ser522=
ENST00000452765.6:c.1482G>A	ENSP00000409746.2:p.Ser494=
ENST00000452765.7:c.62G>A
ENST00000503393.6:c.1653G>A	ENSP00000422168.2:p.Ser551=
ENST00000504450.1:n.779G>A
ENST00000510204.5:n.2311G>A
ENST00000511747.5:c.1482G>A	ENSP00000424846.1:p.Ser494=
ENST00000511747.6:c.1653G>A	ENSP00000424846.2:p.Ser551=
ENST00000513069.1:c.536G>A
ENST00000515737.5:c.*1367G>A	ENSP00000422605.1:n.*1367G>A
ENST00000515802.5:n.1588G>A
XM_005247998.3:c.1491G>A	XP_005248055.1:p.Ser497=
XM_005247999.3:c.1482G>A	XP_005248056.1:p.Ser494=
XM_011513547.1:c.1653G>A	XP_011511849.1:p.Ser551=
XM_011513548.1:c.1426G>A	XP_011511850.1:p.Gly476Arg
XM_011513549.1:c.1482G>A	XP_011511851.1:p.Ser494=
XM_011513550.1:c.1482G>A	XP_011511852.1:p.Ser494=
XM_011513551.1:c.1426G>A	XP_011511853.1:p.Gly476Arg
XM_011513552.1:c.1311G>A	XP_011511854.1:p.Ser437=
XM_011513553.1:c.1119G>A	XP_011511855.1:p.Ser373=
XM_011513554.1:c.771G>A	XP_011511856.1:p.Ser257=
XM_011513555.1:c.827G>A	XP_011511857.1:p.Arg276Gln
XM_011513556.1:c.827G>A	XP_011511858.1:p.Arg276Gln
XR_924990.1:n.1486G>A