Canonical Allele Identifier: CA407183375

Gene: PPP2R1A

Linked Data

• MyVariant Identifiers: chr19:g.52715944T>G (hg19) ; chr19:g.52212691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212691T>G , CM000681.2:g.52212691T>G	GRCh38
NC_000019.9:g.52715944T>G , CM000681.1:g.52715944T>G	GRCh37
NC_000019.8:g.57407756T>G	NCBI36
NG_047068.1:g.27890T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.629T>G	ENSP00000391905.3:p.Phe210Cys
ENST00000703395.1:c.-29T>G	ENSP00000515286.1:n.-29T>G
ENST00000703396.1:n.453T>G
ENST00000703397.1:c.-29T>G	ENSP00000515287.1:n.-29T>G
ENST00000703398.1:c.551T>G	ENSP00000515288.1:p.Phe184Cys
ENST00000703421.1:n.662T>G
ENST00000703422.1:c.485T>G	ENSP00000515292.1:p.Phe162Cys
ENST00000703423.1:c.-29T>G	ENSP00000515293.1:n.-29T>G
ENST00000322088.11:c.509T>G MANE Select	ENSP00000324804.6:p.Phe170Cys
ENST00000322088.10:c.509T>G	ENSP00000324804.6:p.Phe170Cys
ENST00000454220.6:c.629T>G	ENSP00000391905.2:p.Phe210Cys
ENST00000462047.1:n.200T>G
ENST00000462990.5:c.-29T>G	ENSP00000470504.1:n.-29T>G
ENST00000473455.2:n.608T>G
NM_014225.5:c.509T>G	NP_055040.2:p.Phe170Cys
NR_033500.1:n.703T>G
NM_001363656.1:c.-29T>G	NP_001350585.1:n.-29T>G
NM_014225.6:c.509T>G MANE Select	NP_055040.2:p.Phe170Cys
NM_001363656.2:c.-29T>G	NP_001350585.1:n.-29T>G
NR_033500.2:n.453T>G