Canonical Allele Identifier: CA364184271

Gene: PPP2R5D MEA1

Linked Data

• MyVariant Identifiers: chr6:g.42974935T>C (hg19) ; chr6:g.43007197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007197T>C , CM000668.2:g.43007197T>C	GRCh38
NC_000006.11:g.42974935T>C , CM000668.1:g.42974935T>C	GRCh37
NC_000006.10:g.43082913T>C	NCBI36
NG_050636.1:g.27699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.524T>C (PPP2R5D) MANE Select	ENSP00000417963.1:p.Phe175Ser
ENST00000676174.1:n.183T>C (PPP2R5D)
ENST00000230402.10:c.*205T>C (PPP2R5D)	ENSP00000230402.6:n.*205T>C
ENST00000394110.7:c.428T>C (PPP2R5D)	ENSP00000377669.3:p.Phe143Ser
ENST00000461010.5:c.206T>C (PPP2R5D)	ENSP00000420674.1:p.Phe69Ser
ENST00000467447.1:n.101T>C (PPP2R5D)
ENST00000470467.5:c.282T>C (PPP2R5D)
ENST00000472118.5:c.500T>C (PPP2R5D)	ENSP00000420550.1:p.Phe167Ser
ENST00000485511.5:c.524T>C (PPP2R5D)	ENSP00000417963.1:p.Phe175Ser
NM_001270476.1:c.71T>C (PPP2R5D)	NP_001257405.1:p.Phe24Ser
NM_006245.3:c.524T>C (PPP2R5D)	NP_006236.1:p.Phe175Ser
NM_180976.2:c.428T>C (PPP2R5D)	NP_851307.1:p.Phe143Ser
NM_180977.2:c.206T>C (PPP2R5D)	NP_851308.1:p.Phe69Ser
XM_005249123.1:c.367+5729A>G (MEA1)	XP_005249180.1:n.367+5729A>G
XM_017010868.1:c.367+5729A>G (MEA1)	XP_016866357.1:n.367+5729A>G
NM_006245.4:c.524T>C (PPP2R5D) MANE Select	NP_006236.1:p.Phe175Ser
NM_001270476.2:c.71T>C (PPP2R5D)	NP_001257405.1:p.Phe24Ser
NM_180976.3:c.428T>C (PPP2R5D)	NP_851307.1:p.Phe143Ser
NM_180977.3:c.206T>C (PPP2R5D)	NP_851308.1:p.Phe69Ser