Canonical Allele Identifier: CA364184320

Gene: PPP2R5D MEA1

Linked Data

• COSMIC: COSM5595166
• MyVariant Identifiers: chr6:g.42974938C>T (hg19) ; chr6:g.43007200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007200C>T , CM000668.2:g.43007200C>T	GRCh38
NC_000006.11:g.42974938C>T , CM000668.1:g.42974938C>T	GRCh37
NC_000006.10:g.43082916C>T	NCBI36
NG_050636.1:g.27702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.527C>T (PPP2R5D) MANE Select	ENSP00000417963.1:p.Ser176Leu
ENST00000676174.1:n.186C>T (PPP2R5D)
ENST00000230402.10:c.*208C>T (PPP2R5D)	ENSP00000230402.6:n.*208C>T
ENST00000394110.7:c.431C>T (PPP2R5D)	ENSP00000377669.3:p.Ser144Leu
ENST00000461010.5:c.209C>T (PPP2R5D)	ENSP00000420674.1:p.Ser70Leu
ENST00000467447.1:n.104C>T (PPP2R5D)
ENST00000470467.5:c.285C>T (PPP2R5D)
ENST00000472118.5:c.503C>T (PPP2R5D)	ENSP00000420550.1:p.Ser168Leu
ENST00000485511.5:c.527C>T (PPP2R5D)	ENSP00000417963.1:p.Ser176Leu
NM_001270476.1:c.74C>T (PPP2R5D)	NP_001257405.1:p.Ser25Leu
NM_006245.3:c.527C>T (PPP2R5D)	NP_006236.1:p.Ser176Leu
NM_180976.2:c.431C>T (PPP2R5D)	NP_851307.1:p.Ser144Leu
NM_180977.2:c.209C>T (PPP2R5D)	NP_851308.1:p.Ser70Leu
XM_005249123.1:c.367+5726G>A (MEA1)	XP_005249180.1:n.367+5726G>A
XM_017010868.1:c.367+5726G>A (MEA1)	XP_016866357.1:n.367+5726G>A
NM_006245.4:c.527C>T (PPP2R5D) MANE Select	NP_006236.1:p.Ser176Leu
NM_001270476.2:c.74C>T (PPP2R5D)	NP_001257405.1:p.Ser25Leu
NM_180976.3:c.431C>T (PPP2R5D)	NP_851307.1:p.Ser144Leu
NM_180977.3:c.209C>T (PPP2R5D)	NP_851308.1:p.Ser70Leu