Canonical Allele Identifier: CA3111514637
Community Standard Title: NM_001122681.2(SH3BP2):c.1259G= (p.Gly420=)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2831588G= , CM000666.2:g.2831588G= GRCh38
NC_000004.11:g.2833315G= , CM000666.1:g.2833315G= GRCh37
NC_000004.10:g.2803113G= NCBI36
NG_011609.1:g.43566G=

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1259G= MANE Select NP_001116153.1:p.Gly420=
ENST00000503393.8:c.1259G= MANE Select ENSP00000422168.3:p.Gly420=
NM_001122681.1:c.1259G= NP_001116153.1:p.Gly420=
NM_001145855.1:c.1343G= NP_001139327.1:p.Gly448=
NM_001145855.2:c.1343G= NP_001139327.1:p.Gly448=
NM_001145856.1:c.1430G= NP_001139328.1:p.Gly477=
NM_001145856.2:c.1430G= NP_001139328.1:p.Gly477=
NM_003023.4:c.1259G= NP_003014.3:p.Gly420=
ENST00000356331.9:c.1259G= ENSP00000348685.5:p.Gly420=
ENST00000435136.6:c.1259G= ENSP00000403231.2:p.Gly420=
ENST00000435136.8:c.1343G= ENSP00000403231.3:p.Gly448=
ENST00000442312.6:c.1343G= ENSP00000388152.2:p.Gly448=
ENST00000452765.6:c.1259G= ENSP00000409746.2:p.Gly420=
ENST00000503393.6:c.1430G= ENSP00000422168.2:p.Gly477=
ENST00000504450.1:n.556G=
ENST00000510204.5:n.1736G=
ENST00000511747.5:c.1259G= ENSP00000424846.1:p.Gly420=
ENST00000511747.6:c.1430G= ENSP00000424846.2:p.Gly477=
ENST00000513069.1:c.369G=
ENST00000515737.5:c.*1144G= ENSP00000422605.1:n.*1144G=
ENST00000515802.5:n.1365G=
XM_005247998.3:c.1268G= XP_005248055.1:p.Gly423=
XM_005247999.3:c.1259G= XP_005248056.1:p.Gly420=
XM_011513547.1:c.1430G= XP_011511849.1:p.Gly477=
XM_011513548.1:c.1259G= XP_011511850.1:p.Gly420=
XM_011513549.1:c.1259G= XP_011511851.1:p.Gly420=
XM_011513550.1:c.1259G= XP_011511852.1:p.Gly420=
XM_011513551.1:c.1259G= XP_011511853.1:p.Gly420=
XM_011513552.1:c.1088G= XP_011511854.1:p.Gly363=
XM_011513553.1:c.896G= XP_011511855.1:p.Gly299=
XM_011513554.1:c.604G= XP_011511856.1:p.Gly202=
XM_011513555.1:c.604G= XP_011511857.1:p.Gly202=
XM_011513556.1:c.604G= XP_011511858.1:p.Gly202=
XR_924990.1:n.1263G=