Canonical Allele Identifier: CA2819501
Community Standard Title: NM_001122681.2(SH3BP2):c.1385C>T (p.Thr462Met)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2831957C>T , CM000666.2:g.2831957C>T GRCh38
NC_000004.11:g.2833684C>T , CM000666.1:g.2833684C>T GRCh37
NC_000004.10:g.2803482C>T NCBI36
NG_011609.1:g.43935C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1385C>T MANE Select NP_001116153.1:p.Thr462Met
ENST00000503393.8:c.1385C>T MANE Select ENSP00000422168.3:p.Thr462Met
NM_001122681.1:c.1385C>T NP_001116153.1:p.Thr462Met
NM_001145855.1:c.1469C>T NP_001139327.1:p.Thr490Met
NM_001145855.2:c.1469C>T NP_001139327.1:p.Thr490Met
NM_001145856.1:c.1556C>T NP_001139328.1:p.Thr519Met
NM_001145856.2:c.1556C>T NP_001139328.1:p.Thr519Met
NM_003023.4:c.1385C>T NP_003014.3:p.Thr462Met
ENST00000356331.9:c.1385C>T ENSP00000348685.5:p.Thr462Met
ENST00000435136.6:c.1385C>T ENSP00000403231.2:p.Thr462Met
ENST00000435136.8:c.1469C>T ENSP00000403231.3:p.Thr490Met
ENST00000442312.6:c.1469C>T ENSP00000388152.2:p.Thr490Met
ENST00000452765.6:c.1385C>T ENSP00000409746.2:p.Thr462Met
ENST00000503393.6:c.1556C>T ENSP00000422168.2:p.Thr519Met
ENST00000504450.1:n.682C>T
ENST00000510204.5:n.1862C>T
ENST00000511747.5:c.1385C>T ENSP00000424846.1:p.Thr462Met
ENST00000511747.6:c.1556C>T ENSP00000424846.2:p.Thr519Met
ENST00000513069.1:c.460+278C>T
ENST00000515737.5:c.*1270C>T ENSP00000422605.1:n.*1270C>T
ENST00000515802.5:n.1491C>T
XM_005247998.3:c.1394C>T XP_005248055.1:p.Thr465Met
XM_005247999.3:c.1385C>T XP_005248056.1:p.Thr462Met
XM_011513547.1:c.1556C>T XP_011511849.1:p.Thr519Met
XM_011513548.1:c.1350+278C>T XP_011511850.1:n.1350+278C>T
XM_011513549.1:c.1385C>T XP_011511851.1:p.Thr462Met
XM_011513550.1:c.1385C>T XP_011511852.1:p.Thr462Met
XM_011513551.1:c.1350+278C>T XP_011511853.1:n.1350+278C>T
XM_011513552.1:c.1214C>T XP_011511854.1:p.Thr405Met
XM_011513553.1:c.1022C>T XP_011511855.1:p.Thr341Met
XM_011513554.1:c.695+278C>T XP_011511856.1:n.695+278C>T
XM_011513555.1:c.730C>T XP_011511857.1:p.Arg244Trp
XM_011513556.1:c.730C>T XP_011511858.1:p.Arg244Trp
XR_924990.1:n.1389C>T