Canonical Allele Identifier: CA91411204
Community Standard Title: NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2829600G>A , CM000666.2:g.2829600G>A GRCh38
NC_000004.11:g.2831327G>A , CM000666.1:g.2831327G>A GRCh37
NC_000004.10:g.2801125G>A NCBI36
NG_011609.1:g.41578G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.694G>A MANE Select NP_001116153.1:p.Gly232Ser
ENST00000503393.8:c.694G>A MANE Select ENSP00000422168.3:p.Gly232Ser
NM_001122681.1:c.694G>A NP_001116153.1:p.Gly232Ser
NM_001145855.1:c.778G>A NP_001139327.1:p.Gly260Ser
NM_001145855.2:c.778G>A NP_001139327.1:p.Gly260Ser
NM_001145856.1:c.865G>A NP_001139328.1:p.Gly289Ser
NM_001145856.2:c.865G>A NP_001139328.1:p.Gly289Ser
NM_003023.4:c.694G>A NP_003014.3:p.Gly232Ser
ENST00000356331.9:c.694G>A ENSP00000348685.5:p.Gly232Ser
ENST00000435136.6:c.694G>A ENSP00000403231.2:p.Gly232Ser
ENST00000435136.8:c.778G>A ENSP00000403231.3:p.Gly260Ser
ENST00000442312.6:c.778G>A ENSP00000388152.2:p.Gly260Ser
ENST00000452765.6:c.694G>A ENSP00000409746.2:p.Gly232Ser
ENST00000503393.6:c.865G>A ENSP00000422168.2:p.Gly289Ser
ENST00000504450.1:n.538+1926G>A
ENST00000505941.5:n.712G>A
ENST00000510204.5:n.1171G>A
ENST00000511747.5:c.694G>A ENSP00000424846.1:p.Gly232Ser
ENST00000511747.6:c.865G>A ENSP00000424846.2:p.Gly289Ser
ENST00000515183.5:n.432G>A
ENST00000515737.5:c.*579G>A ENSP00000422605.1:n.*579G>A
ENST00000515802.5:n.800G>A
XM_005247998.3:c.703G>A XP_005248055.1:p.Gly235Ser
XM_005247999.3:c.694G>A XP_005248056.1:p.Gly232Ser
XM_011513547.1:c.865G>A XP_011511849.1:p.Gly289Ser
XM_011513548.1:c.694G>A XP_011511850.1:p.Gly232Ser
XM_011513549.1:c.694G>A XP_011511851.1:p.Gly232Ser
XM_011513550.1:c.694G>A XP_011511852.1:p.Gly232Ser
XM_011513551.1:c.694G>A XP_011511853.1:p.Gly232Ser
XM_011513552.1:c.523G>A XP_011511854.1:p.Gly175Ser
XM_011513553.1:c.331G>A XP_011511855.1:p.Gly111Ser
XM_011513554.1:c.586+1926G>A XP_011511856.1:n.586+1926G>A
XM_011513555.1:c.586+1926G>A XP_011511857.1:n.586+1926G>A
XM_011513556.1:c.586+1926G>A XP_011511858.1:n.586+1926G>A
XR_924990.1:n.698G>A