Canonical Allele Identifier: CA563705170
Community Standard Title: NC_000005.10:g.146919048T>A
Gene: PPP2R2B HGNC NCBI
PPP2R2B-IT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146919048T>A , CM000667.2:g.146919048T>A GRCh38
NC_000005.9:g.146298611T>A , CM000667.1:g.146298611T>A GRCh37
NC_000005.8:g.146278804T>A NCBI36
NG_011570.1:g.167423A>T
NG_011570.2:g.167423A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001271899.1:c.88+162011A>T (PPP2R2B) NP_001258828.1:n.88+162011A>T
NM_001271900.1:c.51-40853A>T (PPP2R2B) NP_001258829.1:n.51-40853A>T
NM_001271900.2:c.51-40853A>T (PPP2R2B) NP_001258829.1:n.51-40853A>T
NM_181674.2:c.75-40853A>T (PPP2R2B) NP_858060.2:n.75-40853A>T
NM_181674.3:c.75-40853A>T (PPP2R2B) NP_858060.2:n.75-40853A>T
NM_181676.2:c.79+136617A>T (PPP2R2B) NP_858062.1:n.79+136617A>T
NM_181676.3:c.79+136617A>T (PPP2R2B) NP_858062.1:n.79+136617A>T
NM_181677.2:c.10+116121A>T (PPP2R2B) NP_858063.1:n.10+116121A>T
NM_181678.2:c.-48-62465A>T (PPP2R2B) NP_858064.1:n.-48-62465A>T
NR_047115.1:n.115+344A>T (PPP2R2B-IT1)
ENST00000336640.10:c.79+136617A>T (PPP2R2B) ENSP00000336591.6:n.79+136617A>T
ENST00000394413.7:c.51-40853A>T (PPP2R2B) ENSP00000377935.4:n.51-40853A>T
ENST00000394414.5:c.75-40853A>T (PPP2R2B) ENSP00000377936.1:n.75-40853A>T
ENST00000502876.1:n.362+636A>T (PPP2R2B)
ENST00000504198.5:c.88+162011A>T (PPP2R2B) ENSP00000421396.1:n.88+162011A>T
ENST00000504565.1:c.11-40853A>T (PPP2R2B) ENSP00000425413.1:n.11-40853A>T
ENST00000508267.5:c.10+116121A>T (PPP2R2B) ENSP00000421224.1:n.10+116121A>T
ENST00000508545.6:c.-49+3277A>T (PPP2R2B) ENSP00000431320.1:n.-49+3277A>T
ENST00000509721.1:n.281-40853A>T (PPP2R2B)
ENST00000512011.5:c.*18+121669A>T (PPP2R2B) ENSP00000424409.1:n.*18+121669A>T
ENST00000515880.5:c.*27+135550A>T (PPP2R2B) ENSP00000421577.1:n.*27+135550A>T
ENST00000520231.1:n.198+3277A>T (PPP2R2B)
ENST00000522831.1:n.268-62465A>T (PPP2R2B)
XR_944386.1:n.506+612T>A
XR_944386.2:n.5626+612T>A