Canonical Allele Identifier: CA2819418
Community Standard Title: NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2830122G>C , CM000666.2:g.2830122G>C GRCh38
NC_000004.11:g.2831849G>C , CM000666.1:g.2831849G>C GRCh37
NC_000004.10:g.2801647G>C NCBI36
NG_011609.1:g.42100G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1216G>C MANE Select NP_001116153.1:p.Glu406Gln
ENST00000503393.8:c.1216G>C MANE Select ENSP00000422168.3:p.Glu406Gln
NM_001122681.1:c.1216G>C NP_001116153.1:p.Glu406Gln
NM_001145855.1:c.1300G>C NP_001139327.1:p.Glu434Gln
NM_001145855.2:c.1300G>C NP_001139327.1:p.Glu434Gln
NM_001145856.1:c.1387G>C NP_001139328.1:p.Glu463Gln
NM_001145856.2:c.1387G>C NP_001139328.1:p.Glu463Gln
NM_003023.4:c.1216G>C NP_003014.3:p.Glu406Gln
ENST00000356331.9:c.1216G>C ENSP00000348685.5:p.Glu406Gln
ENST00000435136.6:c.1216G>C ENSP00000403231.2:p.Glu406Gln
ENST00000435136.8:c.1300G>C ENSP00000403231.3:p.Glu434Gln
ENST00000442312.6:c.1300G>C ENSP00000388152.2:p.Glu434Gln
ENST00000452765.6:c.1216G>C ENSP00000409746.2:p.Glu406Gln
ENST00000503393.6:c.1387G>C ENSP00000422168.2:p.Glu463Gln
ENST00000504450.1:n.539-1449G>C
ENST00000510204.5:n.1693G>C
ENST00000511747.5:c.1216G>C ENSP00000424846.1:p.Glu406Gln
ENST00000511747.6:c.1387G>C ENSP00000424846.2:p.Glu463Gln
ENST00000513069.1:c.326G>C
ENST00000515737.5:c.*1101G>C ENSP00000422605.1:n.*1101G>C
ENST00000515802.5:n.1322G>C
XM_005247998.3:c.1225G>C XP_005248055.1:p.Glu409Gln
XM_005247999.3:c.1216G>C XP_005248056.1:p.Glu406Gln
XM_011513547.1:c.1387G>C XP_011511849.1:p.Glu463Gln
XM_011513548.1:c.1216G>C XP_011511850.1:p.Glu406Gln
XM_011513549.1:c.1216G>C XP_011511851.1:p.Glu406Gln
XM_011513550.1:c.1216G>C XP_011511852.1:p.Glu406Gln
XM_011513551.1:c.1216G>C XP_011511853.1:p.Glu406Gln
XM_011513552.1:c.1045G>C XP_011511854.1:p.Glu349Gln
XM_011513553.1:c.853G>C XP_011511855.1:p.Glu285Gln
XM_011513554.1:c.587-1449G>C XP_011511856.1:n.587-1449G>C
XM_011513555.1:c.587-1449G>C XP_011511857.1:n.587-1449G>C
XM_011513556.1:c.587-1449G>C XP_011511858.1:n.587-1449G>C
XR_924990.1:n.1220G>C