Canonical Allele Identifier: CA364191832

Gene: PPP2R5D MEA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43008412G>A , CM000668.2:g.43008412G>A	GRCh38
NC_000006.11:g.42976150G>A , CM000668.1:g.42976150G>A	GRCh37
NC_000006.10:g.43084128G>A	NCBI36
NG_050636.1:g.28914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.963G>A (PPP2R5D) MANE Select	ENSP00000417963.1:p.Met321Ile
ENST00000676174.1:n.757G>A (PPP2R5D)
ENST00000230402.10:c.*644G>A (PPP2R5D)	ENSP00000230402.6:n.*644G>A
ENST00000394110.7:c.867G>A (PPP2R5D)	ENSP00000377669.3:p.Met289Ile
ENST00000461010.5:c.645G>A (PPP2R5D)	ENSP00000420674.1:p.Met215Ile
ENST00000470467.5:c.721G>A (PPP2R5D)
ENST00000472118.5:c.939G>A (PPP2R5D)	ENSP00000420550.1:p.Met313Ile
ENST00000482315.1:n.134G>A (PPP2R5D)
ENST00000485511.5:c.963G>A (PPP2R5D)	ENSP00000417963.1:p.Met321Ile
NM_001270476.1:c.510G>A (PPP2R5D)	NP_001257405.1:p.Met170Ile
NM_006245.3:c.963G>A (PPP2R5D)	NP_006236.1:p.Met321Ile
NM_180976.2:c.867G>A (PPP2R5D)	NP_851307.1:p.Met289Ile
NM_180977.2:c.645G>A (PPP2R5D)	NP_851308.1:p.Met215Ile
XM_005249123.1:c.367+4514C>T (MEA1)	XP_005249180.1:n.367+4514C>T
XM_017010868.1:c.367+4514C>T (MEA1)	XP_016866357.1:n.367+4514C>T
NM_006245.4:c.963G>A (PPP2R5D) MANE Select	NP_006236.1:p.Met321Ile
NM_001270476.2:c.510G>A (PPP2R5D)	NP_001257405.1:p.Met170Ile
NM_180976.3:c.867G>A (PPP2R5D)	NP_851307.1:p.Met289Ile
NM_180977.3:c.645G>A (PPP2R5D)	NP_851308.1:p.Met215Ile