Canonical Allele Identifier: CA2819558
Community Standard Title: NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2832386C>T , CM000666.2:g.2832386C>T GRCh38
NC_000004.11:g.2834113C>T , CM000666.1:g.2834113C>T GRCh37
NC_000004.10:g.2803911C>T NCBI36
NG_011609.1:g.44364C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1462C>T MANE Select NP_001116153.1:p.Arg488Trp
ENST00000503393.8:c.1462C>T MANE Select ENSP00000422168.3:p.Arg488Trp
NM_001122681.1:c.1462C>T NP_001116153.1:p.Arg488Trp
NM_001145855.1:c.1546C>T NP_001139327.1:p.Arg516Trp
NM_001145855.2:c.1546C>T NP_001139327.1:p.Arg516Trp
NM_001145856.1:c.1633C>T NP_001139328.1:p.Arg545Trp
NM_001145856.2:c.1633C>T NP_001139328.1:p.Arg545Trp
NM_003023.4:c.1462C>T NP_003014.3:p.Arg488Trp
ENST00000356331.9:c.1462C>T ENSP00000348685.5:p.Arg488Trp
ENST00000435136.6:c.1462C>T ENSP00000403231.2:p.Arg488Trp
ENST00000435136.8:c.1546C>T ENSP00000403231.3:p.Arg516Trp
ENST00000442312.6:c.1546C>T ENSP00000388152.2:p.Arg516Trp
ENST00000452765.6:c.1462C>T ENSP00000409746.2:p.Arg488Trp
ENST00000452765.7:c.42C>T
ENST00000503393.6:c.1633C>T ENSP00000422168.2:p.Arg545Trp
ENST00000504450.1:n.759C>T
ENST00000510204.5:n.2291C>T
ENST00000511747.5:c.1462C>T ENSP00000424846.1:p.Arg488Trp
ENST00000511747.6:c.1633C>T ENSP00000424846.2:p.Arg545Trp
ENST00000513069.1:c.516C>T
ENST00000515737.5:c.*1347C>T ENSP00000422605.1:n.*1347C>T
ENST00000515802.5:n.1568C>T
XM_005247998.3:c.1471C>T XP_005248055.1:p.Arg491Trp
XM_005247999.3:c.1462C>T XP_005248056.1:p.Arg488Trp
XM_011513547.1:c.1633C>T XP_011511849.1:p.Arg545Trp
XM_011513548.1:c.1406C>T XP_011511850.1:p.Pro469Leu
XM_011513549.1:c.1462C>T XP_011511851.1:p.Arg488Trp
XM_011513550.1:c.1462C>T XP_011511852.1:p.Arg488Trp
XM_011513551.1:c.1406C>T XP_011511853.1:p.Pro469Leu
XM_011513552.1:c.1291C>T XP_011511854.1:p.Arg431Trp
XM_011513553.1:c.1099C>T XP_011511855.1:p.Arg367Trp
XM_011513554.1:c.751C>T XP_011511856.1:p.Arg251Trp
XM_011513555.1:c.807C>T XP_011511857.1:p.Ser269=
XM_011513556.1:c.807C>T XP_011511858.1:p.Ser269=
XR_924990.1:n.1466C>T