Canonical Allele Identifier: CA364142049

Gene: PPP2R5D MEA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43010559G>C , CM000668.2:g.43010559G>C	GRCh38
NC_000006.11:g.42978297G>C , CM000668.1:g.42978297G>C	GRCh37
NC_000006.10:g.43086275G>C	NCBI36
NG_050636.1:g.31061G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006245.4:c.1471G>C (PPP2R5D) MANE Select	NP_006236.1:p.Glu491Gln
ENST00000485511.6:c.1471G>C (PPP2R5D) MANE Select	ENSP00000417963.1:p.Glu491Gln
NM_001270476.1:c.1018G>C (PPP2R5D)	NP_001257405.1:p.Glu340Gln
NM_001270476.2:c.1018G>C (PPP2R5D)	NP_001257405.1:p.Glu340Gln
NM_006245.3:c.1471G>C (PPP2R5D)	NP_006236.1:p.Glu491Gln
NM_180976.2:c.1375G>C (PPP2R5D)	NP_851307.1:p.Glu459Gln
NM_180976.3:c.1375G>C (PPP2R5D)	NP_851307.1:p.Glu459Gln
NM_180977.2:c.1153G>C (PPP2R5D)	NP_851308.1:p.Glu385Gln
NM_180977.3:c.1153G>C (PPP2R5D)	NP_851308.1:p.Glu385Gln
ENST00000230402.10:c.*1152G>C (PPP2R5D)	ENSP00000230402.6:n.*1152G>C
ENST00000394110.7:c.1375G>C (PPP2R5D)	ENSP00000377669.3:p.Glu459Gln
ENST00000461010.5:c.1153G>C (PPP2R5D)	ENSP00000420674.1:p.Glu385Gln
ENST00000470467.5:c.1175G>C (PPP2R5D)
ENST00000472118.5:c.1447G>C (PPP2R5D)	ENSP00000420550.1:p.Glu483Gln
ENST00000485511.5:c.1471G>C (PPP2R5D)	ENSP00000417963.1:p.Glu491Gln
ENST00000486843.1:c.335G>C (PPP2R5D)
ENST00000676174.1:n.1792G>C (PPP2R5D)
XM_005249123.1:c.367+2367C>G (MEA1)	XP_005249180.1:n.367+2367C>G
XM_017010868.1:c.367+2367C>G (MEA1)	XP_016866357.1:n.367+2367C>G