Canonical Allele Identifier: CA2819229
Community Standard Title: NM_001122681.2(SH3BP2):c.528C>T (p.His176=)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2827616C>T , CM000666.2:g.2827616C>T GRCh38
NC_000004.11:g.2829343C>T , CM000666.1:g.2829343C>T GRCh37
NC_000004.10:g.2799141C>T NCBI36
NG_011609.1:g.39594C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.528C>T MANE Select NP_001116153.1:p.His176=
ENST00000503393.8:c.528C>T MANE Select ENSP00000422168.3:p.His176=
NM_001122681.1:c.528C>T NP_001116153.1:p.His176=
NM_001145855.1:c.612C>T NP_001139327.1:p.His204=
NM_001145855.2:c.612C>T NP_001139327.1:p.His204=
NM_001145856.1:c.699C>T NP_001139328.1:p.His233=
NM_001145856.2:c.699C>T NP_001139328.1:p.His233=
NM_003023.4:c.528C>T NP_003014.3:p.His176=
ENST00000356331.9:c.528C>T ENSP00000348685.5:p.His176=
ENST00000435136.6:c.528C>T ENSP00000403231.2:p.His176=
ENST00000435136.8:c.612C>T ENSP00000403231.3:p.His204=
ENST00000442312.6:c.612C>T ENSP00000388152.2:p.His204=
ENST00000452765.6:c.528C>T ENSP00000409746.2:p.His176=
ENST00000503393.6:c.699C>T ENSP00000422168.2:p.His233=
ENST00000504450.1:n.480C>T
ENST00000505941.5:n.546C>T
ENST00000508385.5:c.528C>T ENSP00000424917.1:p.His176=
ENST00000510204.5:n.1005C>T
ENST00000511747.5:c.528C>T ENSP00000424846.1:p.His176=
ENST00000511747.6:c.699C>T ENSP00000424846.2:p.His233=
ENST00000512014.5:c.528C>T ENSP00000424105.1:p.His176=
ENST00000515183.5:n.266C>T
ENST00000515737.5:c.*413C>T ENSP00000422605.1:n.*413C>T
ENST00000515802.5:n.634C>T
XM_005247998.3:c.537C>T XP_005248055.1:p.His179=
XM_005247999.3:c.528C>T XP_005248056.1:p.His176=
XM_011513547.1:c.699C>T XP_011511849.1:p.His233=
XM_011513548.1:c.528C>T XP_011511850.1:p.His176=
XM_011513549.1:c.528C>T XP_011511851.1:p.His176=
XM_011513550.1:c.528C>T XP_011511852.1:p.His176=
XM_011513551.1:c.528C>T XP_011511853.1:p.His176=
XM_011513552.1:c.357C>T XP_011511854.1:p.His119=
XM_011513553.1:c.165C>T XP_011511855.1:p.His55=
XM_011513554.1:c.528C>T XP_011511856.1:p.His176=
XM_011513555.1:c.528C>T XP_011511857.1:p.His176=
XM_011513556.1:c.528C>T XP_011511858.1:p.His176=
XR_924990.1:n.532C>T