Canonical Allele Identifier: CA10575693
Gene: PPP2R5D HGNC NCBI
MEA1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43007275C>G , CM000668.2:g.43007275C>G GRCh38
NC_000006.11:g.42975013C>G , CM000668.1:g.42975013C>G GRCh37
NC_000006.10:g.43082991C>G NCBI36
NG_050636.1:g.27777C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000485511.6:c.602C>G (PPP2R5D) MANE Select ENSP00000417963.1:p.Pro201Arg
ENST00000676174.1:n.261C>G (PPP2R5D)
ENST00000230402.10:c.*283C>G (PPP2R5D) ENSP00000230402.6:n.*283C>G
ENST00000394110.7:c.506C>G (PPP2R5D) ENSP00000377669.3:p.Pro169Arg
ENST00000461010.5:c.284C>G (PPP2R5D) ENSP00000420674.1:p.Pro95Arg
ENST00000467447.1:n.179C>G (PPP2R5D)
ENST00000470467.5:c.360C>G (PPP2R5D)
ENST00000472118.5:c.578C>G (PPP2R5D) ENSP00000420550.1:p.Pro193Arg
ENST00000485511.5:c.602C>G (PPP2R5D) ENSP00000417963.1:p.Pro201Arg
NM_001270476.1:c.149C>G (PPP2R5D) NP_001257405.1:p.Pro50Arg
NM_006245.3:c.602C>G (PPP2R5D) NP_006236.1:p.Pro201Arg
NM_180976.2:c.506C>G (PPP2R5D) NP_851307.1:p.Pro169Arg
NM_180977.2:c.284C>G (PPP2R5D) NP_851308.1:p.Pro95Arg
XM_005249123.1:c.367+5651G>C (MEA1) XP_005249180.1:n.367+5651G>C
XM_017010868.1:c.367+5651G>C (MEA1) XP_016866357.1:n.367+5651G>C
NM_006245.4:c.602C>G (PPP2R5D) MANE Select NP_006236.1:p.Pro201Arg
NM_001270476.2:c.149C>G (PPP2R5D) NP_001257405.1:p.Pro50Arg
NM_180976.3:c.506C>G (PPP2R5D) NP_851307.1:p.Pro169Arg
NM_180977.3:c.284C>G (PPP2R5D) NP_851308.1:p.Pro95Arg