Canonical Allele Identifier: CA325480

Gene: PPP2R5D MEA1

Linked Data

• ClinVar Variation Id: 217456
• ClinVar RCV Id: RCV000201454 ; RCV000202069 ; RCV001265718
• dbSNP Id: rs863225079
• MyVariant Identifiers: chr6:g.42975009G>A (hg19) ; chr6:g.43007271G>A (hg38)
• PubMed: PMID:25972378 ; PMID:26168268 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007271G>A , CM000668.2:g.43007271G>A	GRCh38
NC_000006.11:g.42975009G>A , CM000668.1:g.42975009G>A	GRCh37
NC_000006.10:g.43082987G>A	NCBI36
NG_050636.1:g.27773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.598G>A (PPP2R5D) MANE Select	ENSP00000417963.1:p.Glu200Lys
ENST00000676174.1:n.257G>A (PPP2R5D)
ENST00000230402.10:c.*279G>A (PPP2R5D)	ENSP00000230402.6:n.*279G>A
ENST00000394110.7:c.502G>A (PPP2R5D)	ENSP00000377669.3:p.Glu168Lys
ENST00000461010.5:c.280G>A (PPP2R5D)	ENSP00000420674.1:p.Glu94Lys
ENST00000467447.1:n.175G>A (PPP2R5D)
ENST00000470467.5:c.356G>A (PPP2R5D)
ENST00000472118.5:c.574G>A (PPP2R5D)	ENSP00000420550.1:p.Glu192Lys
ENST00000485511.5:c.598G>A (PPP2R5D)	ENSP00000417963.1:p.Glu200Lys
NM_001270476.1:c.145G>A (PPP2R5D)	NP_001257405.1:p.Glu49Lys
NM_006245.3:c.598G>A (PPP2R5D)	NP_006236.1:p.Glu200Lys
NM_180976.2:c.502G>A (PPP2R5D)	NP_851307.1:p.Glu168Lys
NM_180977.2:c.280G>A (PPP2R5D)	NP_851308.1:p.Glu94Lys
XM_005249123.1:c.367+5655C>T (MEA1)	XP_005249180.1:n.367+5655C>T
XM_017010868.1:c.367+5655C>T (MEA1)	XP_016866357.1:n.367+5655C>T
NM_006245.4:c.598G>A (PPP2R5D) MANE Select	NP_006236.1:p.Glu200Lys
NM_001270476.2:c.145G>A (PPP2R5D)	NP_001257405.1:p.Glu49Lys
NM_180976.3:c.502G>A (PPP2R5D)	NP_851307.1:p.Glu168Lys
NM_180977.3:c.280G>A (PPP2R5D)	NP_851308.1:p.Glu94Lys