Canonical Allele Identifier: CA325481

Gene: PPP2R5D MEA1

Linked Data

• ClinVar Variation Id: 190286
• ClinVar RCV Id: RCV000170482 ; RCV000202079 ; RCV000623917 ; RCV001420208 ; RCV001255395 ; RCV001261364 ; RCV002273972
• dbSNP Id: rs863225082
• COSMIC: COSM3949242
• MyVariant Identifiers: chr6:g.42975003G>A (hg19) ; chr6:g.43007265G>A (hg38)
• PubMed: PMID:8703017 ; PMID:20017541 ; PMID:23033978 ; PMID:24896178 ; PMID:25533962 ; PMID:25972378 ; PMID:26168268 ; PMID:26576547 ; PMID:27479843 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007265G>A , CM000668.2:g.43007265G>A	GRCh38
NC_000006.11:g.42975003G>A , CM000668.1:g.42975003G>A	GRCh37
NC_000006.10:g.43082981G>A	NCBI36
NG_050636.1:g.27767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.592G>A (PPP2R5D) MANE Select	ENSP00000417963.1:p.Glu198Lys
ENST00000676174.1:n.251G>A (PPP2R5D)
ENST00000230402.10:c.*273G>A (PPP2R5D)	ENSP00000230402.6:n.*273G>A
ENST00000394110.7:c.496G>A (PPP2R5D)	ENSP00000377669.3:p.Glu166Lys
ENST00000461010.5:c.274G>A (PPP2R5D)	ENSP00000420674.1:p.Glu92Lys
ENST00000467447.1:n.169G>A (PPP2R5D)
ENST00000470467.5:c.350G>A (PPP2R5D)
ENST00000472118.5:c.568G>A (PPP2R5D)	ENSP00000420550.1:p.Glu190Lys
ENST00000485511.5:c.592G>A (PPP2R5D)	ENSP00000417963.1:p.Glu198Lys
NM_001270476.1:c.139G>A (PPP2R5D)	NP_001257405.1:p.Glu47Lys
NM_006245.3:c.592G>A (PPP2R5D)	NP_006236.1:p.Glu198Lys
NM_180976.2:c.496G>A (PPP2R5D)	NP_851307.1:p.Glu166Lys
NM_180977.2:c.274G>A (PPP2R5D)	NP_851308.1:p.Glu92Lys
XM_005249123.1:c.367+5661C>T (MEA1)	XP_005249180.1:n.367+5661C>T
XM_017010868.1:c.367+5661C>T (MEA1)	XP_016866357.1:n.367+5661C>T
NM_006245.4:c.592G>A (PPP2R5D) MANE Select	NP_006236.1:p.Glu198Lys
NM_001270476.2:c.139G>A (PPP2R5D)	NP_001257405.1:p.Glu47Lys
NM_180976.3:c.496G>A (PPP2R5D)	NP_851307.1:p.Glu166Lys
NM_180977.3:c.274G>A (PPP2R5D)	NP_851308.1:p.Glu92Lys