Canonical Allele Identifier: CA364194408

Gene: PPP2R5D MEA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43009353A>G , CM000668.2:g.43009353A>G	GRCh38
NC_000006.11:g.42977091A>G , CM000668.1:g.42977091A>G	GRCh37
NC_000006.10:g.43085069A>G	NCBI36
NG_050636.1:g.29855A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006245.4:c.1283A>G (PPP2R5D) MANE Select	NP_006236.1:p.Asn428Ser
ENST00000485511.6:c.1283A>G (PPP2R5D) MANE Select	ENSP00000417963.1:p.Asn428Ser
NM_001270476.1:c.830A>G (PPP2R5D)	NP_001257405.1:p.Asn277Ser
NM_001270476.2:c.830A>G (PPP2R5D)	NP_001257405.1:p.Asn277Ser
NM_006245.3:c.1283A>G (PPP2R5D)	NP_006236.1:p.Asn428Ser
NM_180976.2:c.1187A>G (PPP2R5D)	NP_851307.1:p.Asn396Ser
NM_180976.3:c.1187A>G (PPP2R5D)	NP_851307.1:p.Asn396Ser
NM_180977.2:c.965A>G (PPP2R5D)	NP_851308.1:p.Asn322Ser
NM_180977.3:c.965A>G (PPP2R5D)	NP_851308.1:p.Asn322Ser
ENST00000230402.10:c.*964A>G (PPP2R5D)	ENSP00000230402.6:n.*964A>G
ENST00000394110.7:c.1187A>G (PPP2R5D)	ENSP00000377669.3:p.Asn396Ser
ENST00000461010.5:c.965A>G (PPP2R5D)	ENSP00000420674.1:p.Asn322Ser
ENST00000470467.5:c.987A>G (PPP2R5D)
ENST00000472118.5:c.1259A>G (PPP2R5D)	ENSP00000420550.1:p.Asn420Ser
ENST00000482315.1:n.454A>G (PPP2R5D)
ENST00000485511.5:c.1283A>G (PPP2R5D)	ENSP00000417963.1:p.Asn428Ser
ENST00000486843.1:c.147A>G (PPP2R5D)
ENST00000676174.1:n.1604A>G (PPP2R5D)
XM_005249123.1:c.367+3573T>C (MEA1)	XP_005249180.1:n.367+3573T>C
XM_017010868.1:c.367+3573T>C (MEA1)	XP_016866357.1:n.367+3573T>C