Canonical Allele Identifier: CA2819063

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2825167C>T , CM000666.2:g.2825167C>T	GRCh38
NC_000004.11:g.2826894C>T , CM000666.1:g.2826894C>T	GRCh37
NC_000004.10:g.2796692C>T	NCBI36
NG_011609.1:g.37145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.399C>T MANE Select	NP_001116153.1:p.His133=
ENST00000503393.8:c.399C>T MANE Select	ENSP00000422168.3:p.His133=
NM_001122681.1:c.399C>T	NP_001116153.1:p.His133=
NM_001145855.1:c.483C>T	NP_001139327.1:p.His161=
NM_001145855.2:c.483C>T	NP_001139327.1:p.His161=
NM_001145856.1:c.570C>T	NP_001139328.1:p.His190=
NM_001145856.2:c.570C>T	NP_001139328.1:p.His190=
NM_003023.4:c.399C>T	NP_003014.3:p.His133=
ENST00000356331.9:c.399C>T	ENSP00000348685.5:p.His133=
ENST00000435136.6:c.399C>T	ENSP00000403231.2:p.His133=
ENST00000435136.8:c.483C>T	ENSP00000403231.3:p.His161=
ENST00000442312.6:c.483C>T	ENSP00000388152.2:p.His161=
ENST00000452765.6:c.399C>T	ENSP00000409746.2:p.His133=
ENST00000502260.5:c.399C>T	ENSP00000425537.1:p.His133=
ENST00000503219.5:c.399C>T	ENSP00000422796.1:p.His133=
ENST00000503393.6:c.570C>T	ENSP00000422168.2:p.His190=
ENST00000504294.5:c.399C>T	ENSP00000423275.1:p.His133=
ENST00000505941.5:n.417C>T
ENST00000508385.5:c.399C>T	ENSP00000424917.1:p.His133=
ENST00000511185.5:n.975C>T
ENST00000511663.5:n.849C>T
ENST00000511747.5:c.399C>T	ENSP00000424846.1:p.His133=
ENST00000511747.6:c.570C>T	ENSP00000424846.2:p.His190=
ENST00000512014.5:c.399C>T	ENSP00000424105.1:p.His133=
ENST00000513020.5:c.*280C>T	ENSP00000424072.1:n.*280C>T
ENST00000513095.5:c.399C>T	ENSP00000423823.1:p.His133=
ENST00000515183.5:n.137C>T
ENST00000515737.5:c.*284C>T	ENSP00000422605.1:n.*284C>T
XM_005247998.3:c.408C>T	XP_005248055.1:p.His136=
XM_005247999.3:c.399C>T	XP_005248056.1:p.His133=
XM_011513547.1:c.570C>T	XP_011511849.1:p.His190=
XM_011513548.1:c.399C>T	XP_011511850.1:p.His133=
XM_011513549.1:c.399C>T	XP_011511851.1:p.His133=
XM_011513550.1:c.399C>T	XP_011511852.1:p.His133=
XM_011513551.1:c.399C>T	XP_011511853.1:p.His133=
XM_011513552.1:c.228C>T	XP_011511854.1:p.His76=
XM_011513553.1:c.36C>T	XP_011511855.1:p.His12=
XM_011513554.1:c.399C>T	XP_011511856.1:p.His133=
XM_011513555.1:c.399C>T	XP_011511857.1:p.His133=
XM_011513556.1:c.399C>T	XP_011511858.1:p.His133=
XR_924990.1:n.403C>T