Canonical Allele Identifier: CA325483

Gene: PPP2R5D MEA1

Linked Data

• ClinVar Variation Id: 217912
• ClinVar RCV Id: RCV000202211 ; RCV000624654 ; RCV001250807
• dbSNP Id: rs863225080
• MyVariant Identifiers: chr6:g.42977066G>A (hg19) ; chr6:g.43009328G>A (hg38)
• PubMed: PMID:8703017 ; PMID:20017541 ; PMID:23033978 ; PMID:24896178 ; PMID:25533962 ; PMID:25972378 ; PMID:26168268 ; PMID:26576547 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43009328G>A , CM000668.2:g.43009328G>A	GRCh38
NC_000006.11:g.42977066G>A , CM000668.1:g.42977066G>A	GRCh37
NC_000006.10:g.43085044G>A	NCBI36
NG_050636.1:g.29830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.1258G>A (PPP2R5D) MANE Select	ENSP00000417963.1:p.Glu420Lys
ENST00000676174.1:n.1579G>A (PPP2R5D)
ENST00000230402.10:c.*939G>A (PPP2R5D)	ENSP00000230402.6:n.*939G>A
ENST00000394110.7:c.1162G>A (PPP2R5D)	ENSP00000377669.3:p.Glu388Lys
ENST00000461010.5:c.940G>A (PPP2R5D)	ENSP00000420674.1:p.Glu314Lys
ENST00000470467.5:c.962G>A (PPP2R5D)
ENST00000472118.5:c.1234G>A (PPP2R5D)	ENSP00000420550.1:p.Glu412Lys
ENST00000482315.1:n.429G>A (PPP2R5D)
ENST00000485511.5:c.1258G>A (PPP2R5D)	ENSP00000417963.1:p.Glu420Lys
ENST00000486843.1:c.122G>A (PPP2R5D)
NM_001270476.1:c.805G>A (PPP2R5D)	NP_001257405.1:p.Glu269Lys
NM_006245.3:c.1258G>A (PPP2R5D)	NP_006236.1:p.Glu420Lys
NM_180976.2:c.1162G>A (PPP2R5D)	NP_851307.1:p.Glu388Lys
NM_180977.2:c.940G>A (PPP2R5D)	NP_851308.1:p.Glu314Lys
XM_005249123.1:c.367+3598C>T (MEA1)	XP_005249180.1:n.367+3598C>T
XM_017010868.1:c.367+3598C>T (MEA1)	XP_016866357.1:n.367+3598C>T
NM_006245.4:c.1258G>A (PPP2R5D) MANE Select	NP_006236.1:p.Glu420Lys
NM_001270476.2:c.805G>A (PPP2R5D)	NP_001257405.1:p.Glu269Lys
NM_180976.3:c.1162G>A (PPP2R5D)	NP_851307.1:p.Glu388Lys
NM_180977.3:c.940G>A (PPP2R5D)	NP_851308.1:p.Glu314Lys