Canonical Allele Identifier: CA364189170

Gene: PPP2R5D MEA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007965C>G , CM000668.2:g.43007965C>G	GRCh38
NC_000006.11:g.42975703C>G , CM000668.1:g.42975703C>G	GRCh37
NC_000006.10:g.43083681C>G	NCBI36
NG_050636.1:g.28467C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006245.4:c.757C>G (PPP2R5D) MANE Select	NP_006236.1:p.Arg253Gly
ENST00000485511.6:c.757C>G (PPP2R5D) MANE Select	ENSP00000417963.1:p.Arg253Gly
NM_001270476.1:c.304C>G (PPP2R5D)	NP_001257405.1:p.Arg102Gly
NM_001270476.2:c.304C>G (PPP2R5D)	NP_001257405.1:p.Arg102Gly
NM_006245.3:c.757C>G (PPP2R5D)	NP_006236.1:p.Arg253Gly
NM_180976.2:c.661C>G (PPP2R5D)	NP_851307.1:p.Arg221Gly
NM_180976.3:c.661C>G (PPP2R5D)	NP_851307.1:p.Arg221Gly
NM_180977.2:c.439C>G (PPP2R5D)	NP_851308.1:p.Arg147Gly
NM_180977.3:c.439C>G (PPP2R5D)	NP_851308.1:p.Arg147Gly
ENST00000230402.10:c.*438C>G (PPP2R5D)	ENSP00000230402.6:n.*438C>G
ENST00000394110.7:c.661C>G (PPP2R5D)	ENSP00000377669.3:p.Arg221Gly
ENST00000461010.5:c.439C>G (PPP2R5D)	ENSP00000420674.1:p.Arg147Gly
ENST00000467447.1:n.334C>G (PPP2R5D)
ENST00000470467.5:c.515C>G (PPP2R5D)
ENST00000472118.5:c.733C>G (PPP2R5D)	ENSP00000420550.1:p.Arg245Gly
ENST00000485511.5:c.757C>G (PPP2R5D)	ENSP00000417963.1:p.Arg253Gly
ENST00000676174.1:n.416C>G (PPP2R5D)
XM_005249123.1:c.367+4961G>C (MEA1)	XP_005249180.1:n.367+4961G>C
XM_017010868.1:c.367+4961G>C (MEA1)	XP_016866357.1:n.367+4961G>C