Canonical Allele Identifier: CA2819287
Community Standard Title: NM_001122681.2(SH3BP2):c.644C>G (p.Pro215Arg)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2829550C>G , CM000666.2:g.2829550C>G GRCh38
NC_000004.11:g.2831277C>G , CM000666.1:g.2831277C>G GRCh37
NC_000004.10:g.2801075C>G NCBI36
NG_011609.1:g.41528C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.644C>G MANE Select NP_001116153.1:p.Pro215Arg
ENST00000503393.8:c.644C>G MANE Select ENSP00000422168.3:p.Pro215Arg
NM_001122681.1:c.644C>G NP_001116153.1:p.Pro215Arg
NM_001145855.1:c.728C>G NP_001139327.1:p.Pro243Arg
NM_001145855.2:c.728C>G NP_001139327.1:p.Pro243Arg
NM_001145856.1:c.815C>G NP_001139328.1:p.Pro272Arg
NM_001145856.2:c.815C>G NP_001139328.1:p.Pro272Arg
NM_003023.4:c.644C>G NP_003014.3:p.Pro215Arg
ENST00000356331.9:c.644C>G ENSP00000348685.5:p.Pro215Arg
ENST00000435136.6:c.644C>G ENSP00000403231.2:p.Pro215Arg
ENST00000435136.8:c.728C>G ENSP00000403231.3:p.Pro243Arg
ENST00000442312.6:c.728C>G ENSP00000388152.2:p.Pro243Arg
ENST00000452765.6:c.644C>G ENSP00000409746.2:p.Pro215Arg
ENST00000503393.6:c.815C>G ENSP00000422168.2:p.Pro272Arg
ENST00000504450.1:n.538+1876C>G
ENST00000505941.5:n.662C>G
ENST00000510204.5:n.1121C>G
ENST00000511747.5:c.644C>G ENSP00000424846.1:p.Pro215Arg
ENST00000511747.6:c.815C>G ENSP00000424846.2:p.Pro272Arg
ENST00000515183.5:n.382C>G
ENST00000515737.5:c.*529C>G ENSP00000422605.1:n.*529C>G
ENST00000515802.5:n.750C>G
XM_005247998.3:c.653C>G XP_005248055.1:p.Pro218Arg
XM_005247999.3:c.644C>G XP_005248056.1:p.Pro215Arg
XM_011513547.1:c.815C>G XP_011511849.1:p.Pro272Arg
XM_011513548.1:c.644C>G XP_011511850.1:p.Pro215Arg
XM_011513549.1:c.644C>G XP_011511851.1:p.Pro215Arg
XM_011513550.1:c.644C>G XP_011511852.1:p.Pro215Arg
XM_011513551.1:c.644C>G XP_011511853.1:p.Pro215Arg
XM_011513552.1:c.473C>G XP_011511854.1:p.Pro158Arg
XM_011513553.1:c.281C>G XP_011511855.1:p.Pro94Arg
XM_011513554.1:c.586+1876C>G XP_011511856.1:n.586+1876C>G
XM_011513555.1:c.586+1876C>G XP_011511857.1:n.586+1876C>G
XM_011513556.1:c.586+1876C>G XP_011511858.1:n.586+1876C>G
XR_924990.1:n.648C>G