Canonical Allele Identifier: CA364185536

Gene: PPP2R5D MEA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007298C>T , CM000668.2:g.43007298C>T	GRCh38
NC_000006.11:g.42975036C>T , CM000668.1:g.42975036C>T	GRCh37
NC_000006.10:g.43083014C>T	NCBI36
NG_050636.1:g.27800C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006245.4:c.625C>T (PPP2R5D) MANE Select	NP_006236.1:p.His209Tyr
ENST00000485511.6:c.625C>T (PPP2R5D) MANE Select	ENSP00000417963.1:p.His209Tyr
NM_001270476.1:c.172C>T (PPP2R5D)	NP_001257405.1:p.His58Tyr
NM_001270476.2:c.172C>T (PPP2R5D)	NP_001257405.1:p.His58Tyr
NM_006245.3:c.625C>T (PPP2R5D)	NP_006236.1:p.His209Tyr
NM_180976.2:c.529C>T (PPP2R5D)	NP_851307.1:p.His177Tyr
NM_180976.3:c.529C>T (PPP2R5D)	NP_851307.1:p.His177Tyr
NM_180977.2:c.307C>T (PPP2R5D)	NP_851308.1:p.His103Tyr
NM_180977.3:c.307C>T (PPP2R5D)	NP_851308.1:p.His103Tyr
ENST00000230402.10:c.*306C>T (PPP2R5D)	ENSP00000230402.6:n.*306C>T
ENST00000394110.7:c.529C>T (PPP2R5D)	ENSP00000377669.3:p.His177Tyr
ENST00000461010.5:c.307C>T (PPP2R5D)	ENSP00000420674.1:p.His103Tyr
ENST00000467447.1:n.202C>T (PPP2R5D)
ENST00000470467.5:c.383C>T (PPP2R5D)
ENST00000472118.5:c.601C>T (PPP2R5D)	ENSP00000420550.1:p.His201Tyr
ENST00000485511.5:c.625C>T (PPP2R5D)	ENSP00000417963.1:p.His209Tyr
ENST00000676174.1:n.284C>T (PPP2R5D)
XM_005249123.1:c.367+5628G>A (MEA1)	XP_005249180.1:n.367+5628G>A
XM_017010868.1:c.367+5628G>A (MEA1)	XP_016866357.1:n.367+5628G>A