Canonical Allele Identifier: CA2819598
Community Standard Title: NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2833008G>A , CM000666.2:g.2833008G>A GRCh38
NC_000004.11:g.2834735G>A , CM000666.1:g.2834735G>A GRCh37
NC_000004.10:g.2804533G>A NCBI36
NG_011609.1:g.44986G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1507G>A MANE Select NP_001116153.1:p.Glu503Lys
ENST00000503393.8:c.1507G>A MANE Select ENSP00000422168.3:p.Glu503Lys
NM_001122681.1:c.1507G>A NP_001116153.1:p.Glu503Lys
NM_001145855.1:c.1591G>A NP_001139327.1:p.Glu531Lys
NM_001145855.2:c.1591G>A NP_001139327.1:p.Glu531Lys
NM_001145856.1:c.1678G>A NP_001139328.1:p.Glu560Lys
NM_001145856.2:c.1678G>A NP_001139328.1:p.Glu560Lys
NM_003023.4:c.1507G>A NP_003014.3:p.Glu503Lys
ENST00000356331.9:c.1507G>A ENSP00000348685.5:p.Glu503Lys
ENST00000435136.6:c.1507G>A ENSP00000403231.2:p.Glu503Lys
ENST00000435136.8:c.1591G>A ENSP00000403231.3:p.Glu531Lys
ENST00000442312.6:c.1591G>A ENSP00000388152.2:p.Glu531Lys
ENST00000452765.6:c.1507G>A ENSP00000409746.2:p.Glu503Lys
ENST00000452765.7:c.156G>A
ENST00000503393.6:c.1678G>A ENSP00000422168.2:p.Glu560Lys
ENST00000504450.1:n.804G>A
ENST00000510204.5:n.2336G>A
ENST00000511747.5:c.1507G>A ENSP00000424846.1:p.Glu503Lys
ENST00000511747.6:c.1678G>A ENSP00000424846.2:p.Glu560Lys
ENST00000513069.1:c.561G>A
ENST00000515737.5:c.*1392G>A ENSP00000422605.1:n.*1392G>A
ENST00000515802.5:n.1613G>A
XM_005247998.3:c.1516G>A XP_005248055.1:p.Glu506Lys
XM_005247999.3:c.1507G>A XP_005248056.1:p.Glu503Lys
XM_011513547.1:c.1678G>A XP_011511849.1:p.Glu560Lys
XM_011513548.1:c.1520G>A XP_011511850.1:p.Arg507Gln
XM_011513549.1:c.1507G>A XP_011511851.1:p.Glu503Lys
XM_011513550.1:c.1507G>A XP_011511852.1:p.Glu503Lys
XM_011513551.1:c.1451G>A XP_011511853.1:p.Arg484Gln
XM_011513552.1:c.1336G>A XP_011511854.1:p.Glu446Lys
XM_011513553.1:c.1144G>A XP_011511855.1:p.Glu382Lys
XM_011513554.1:c.796G>A XP_011511856.1:p.Glu266Lys
XM_011513555.1:c.921G>A XP_011511857.1:p.Thr307=
XM_011513556.1:c.852G>A XP_011511858.1:p.Thr284=
XR_924990.1:n.1580G>A