Canonical Allele Identifier: CA2819416
Community Standard Title: NM_001122681.2(SH3BP2):c.1198G>A (p.Ala400Thr)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2830104G>A , CM000666.2:g.2830104G>A GRCh38
NC_000004.11:g.2831831G>A , CM000666.1:g.2831831G>A GRCh37
NC_000004.10:g.2801629G>A NCBI36
NG_011609.1:g.42082G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1198G>A MANE Select NP_001116153.1:p.Ala400Thr
ENST00000503393.8:c.1198G>A MANE Select ENSP00000422168.3:p.Ala400Thr
NM_001122681.1:c.1198G>A NP_001116153.1:p.Ala400Thr
NM_001145855.1:c.1282G>A NP_001139327.1:p.Ala428Thr
NM_001145855.2:c.1282G>A NP_001139327.1:p.Ala428Thr
NM_001145856.1:c.1369G>A NP_001139328.1:p.Ala457Thr
NM_001145856.2:c.1369G>A NP_001139328.1:p.Ala457Thr
NM_003023.4:c.1198G>A NP_003014.3:p.Ala400Thr
ENST00000356331.9:c.1198G>A ENSP00000348685.5:p.Ala400Thr
ENST00000435136.6:c.1198G>A ENSP00000403231.2:p.Ala400Thr
ENST00000435136.8:c.1282G>A ENSP00000403231.3:p.Ala428Thr
ENST00000442312.6:c.1282G>A ENSP00000388152.2:p.Ala428Thr
ENST00000452765.6:c.1198G>A ENSP00000409746.2:p.Ala400Thr
ENST00000503393.6:c.1369G>A ENSP00000422168.2:p.Ala457Thr
ENST00000504450.1:n.539-1467G>A
ENST00000510204.5:n.1675G>A
ENST00000511747.5:c.1198G>A ENSP00000424846.1:p.Ala400Thr
ENST00000511747.6:c.1369G>A ENSP00000424846.2:p.Ala457Thr
ENST00000513069.1:c.308G>A
ENST00000515737.5:c.*1083G>A ENSP00000422605.1:n.*1083G>A
ENST00000515802.5:n.1304G>A
XM_005247998.3:c.1207G>A XP_005248055.1:p.Ala403Thr
XM_005247999.3:c.1198G>A XP_005248056.1:p.Ala400Thr
XM_011513547.1:c.1369G>A XP_011511849.1:p.Ala457Thr
XM_011513548.1:c.1198G>A XP_011511850.1:p.Ala400Thr
XM_011513549.1:c.1198G>A XP_011511851.1:p.Ala400Thr
XM_011513550.1:c.1198G>A XP_011511852.1:p.Ala400Thr
XM_011513551.1:c.1198G>A XP_011511853.1:p.Ala400Thr
XM_011513552.1:c.1027G>A XP_011511854.1:p.Ala343Thr
XM_011513553.1:c.835G>A XP_011511855.1:p.Ala279Thr
XM_011513554.1:c.587-1467G>A XP_011511856.1:n.587-1467G>A
XM_011513555.1:c.587-1467G>A XP_011511857.1:n.587-1467G>A
XM_011513556.1:c.587-1467G>A XP_011511858.1:n.587-1467G>A
XR_924990.1:n.1202G>A