Canonical Allele Identifier: CA10603009

Gene: PPP2R5D MEA1

Linked Data

• ClinVar Variation Id: 280435
• ClinVar RCV Id: RCV000307513 ; RCV001265481
• dbSNP Id: rs869320691
• MyVariant Identifiers: chr6:g.42975030T>C (hg19) ; chr6:g.43007292T>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007292T>C , CM000668.2:g.43007292T>C	GRCh38
NC_000006.11:g.42975030T>C , CM000668.1:g.42975030T>C	GRCh37
NC_000006.10:g.43083008T>C	NCBI36
NG_050636.1:g.27794T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000485511.6:c.619T>C (PPP2R5D) MANE Select	ENSP00000417963.1:p.Trp207Arg
ENST00000676174.1:n.278T>C (PPP2R5D)
ENST00000230402.10:c.*300T>C (PPP2R5D)	ENSP00000230402.6:n.*300T>C
ENST00000394110.7:c.523T>C (PPP2R5D)	ENSP00000377669.3:p.Trp175Arg
ENST00000461010.5:c.301T>C (PPP2R5D)	ENSP00000420674.1:p.Trp101Arg
ENST00000467447.1:n.196T>C (PPP2R5D)
ENST00000470467.5:c.377T>C (PPP2R5D)
ENST00000472118.5:c.595T>C (PPP2R5D)	ENSP00000420550.1:p.Trp199Arg
ENST00000485511.5:c.619T>C (PPP2R5D)	ENSP00000417963.1:p.Trp207Arg
NM_001270476.1:c.166T>C (PPP2R5D)	NP_001257405.1:p.Trp56Arg
NM_006245.3:c.619T>C (PPP2R5D)	NP_006236.1:p.Trp207Arg
NM_180976.2:c.523T>C (PPP2R5D)	NP_851307.1:p.Trp175Arg
NM_180977.2:c.301T>C (PPP2R5D)	NP_851308.1:p.Trp101Arg
XM_005249123.1:c.367+5634A>G (MEA1)	XP_005249180.1:n.367+5634A>G
XM_017010868.1:c.367+5634A>G (MEA1)	XP_016866357.1:n.367+5634A>G
NM_006245.4:c.619T>C (PPP2R5D) MANE Select	NP_006236.1:p.Trp207Arg
NM_001270476.2:c.166T>C (PPP2R5D)	NP_001257405.1:p.Trp56Arg
NM_180976.3:c.523T>C (PPP2R5D)	NP_851307.1:p.Trp175Arg
NM_180977.3:c.301T>C (PPP2R5D)	NP_851308.1:p.Trp101Arg