Canonical Allele Identifier: CA407184170

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs927429254
• MyVariant Identifiers: chr19:g.52716086G>T (hg19) ; chr19:g.52212833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212833G>T , CM000681.2:g.52212833G>T	GRCh38
NC_000019.9:g.52716086G>T , CM000681.1:g.52716086G>T	GRCh37
NC_000019.8:g.57407898G>T	NCBI36
NG_047068.1:g.28032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.771G>T	ENSP00000391905.3:p.Gln257His
ENST00000703395.1:c.114G>T	ENSP00000515286.1:p.Gln38His
ENST00000703396.1:n.595G>T
ENST00000703397.1:c.114G>T	ENSP00000515287.1:p.Gln38His
ENST00000703398.1:c.693G>T	ENSP00000515288.1:p.Gln231His
ENST00000703421.1:n.804G>T
ENST00000703422.1:c.627G>T	ENSP00000515292.1:p.Gln209His
ENST00000703423.1:c.114G>T	ENSP00000515293.1:p.Gln38His
ENST00000322088.11:c.651G>T MANE Select	ENSP00000324804.6:p.Gln217His
ENST00000322088.10:c.651G>T	ENSP00000324804.6:p.Gln217His
ENST00000454220.6:c.771G>T	ENSP00000391905.2:p.Gln257His
ENST00000462047.1:n.342G>T
ENST00000462990.5:c.114G>T	ENSP00000470504.1:p.Gln38His
ENST00000473820.1:n.4G>T
NM_014225.5:c.651G>T	NP_055040.2:p.Gln217His
NR_033500.1:n.845G>T
NM_001363656.1:c.114G>T	NP_001350585.1:p.Gln38His
NM_014225.6:c.651G>T MANE Select	NP_055040.2:p.Gln217His
NM_001363656.2:c.114G>T	NP_001350585.1:p.Gln38His
NR_033500.2:n.595G>T