Canonical Allele Identifier: CA407184083

Gene: PPP2R1A

Linked Data

• MyVariant Identifiers: chr19:g.52716070T>C (hg19) ; chr19:g.52212817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212817T>C , CM000681.2:g.52212817T>C	GRCh38
NC_000019.9:g.52716070T>C , CM000681.1:g.52716070T>C	GRCh37
NC_000019.8:g.57407882T>C	NCBI36
NG_047068.1:g.28016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.755T>C	ENSP00000391905.3:p.Leu252Pro
ENST00000703395.1:c.98T>C	ENSP00000515286.1:p.Leu33Pro
ENST00000703396.1:n.579T>C
ENST00000703397.1:c.98T>C	ENSP00000515287.1:p.Leu33Pro
ENST00000703398.1:c.677T>C	ENSP00000515288.1:p.Leu226Pro
ENST00000703421.1:n.788T>C
ENST00000703422.1:c.611T>C	ENSP00000515292.1:p.Leu204Pro
ENST00000703423.1:c.98T>C	ENSP00000515293.1:p.Leu33Pro
ENST00000322088.11:c.635T>C MANE Select	ENSP00000324804.6:p.Leu212Pro
ENST00000322088.10:c.635T>C	ENSP00000324804.6:p.Leu212Pro
ENST00000454220.6:c.755T>C	ENSP00000391905.2:p.Leu252Pro
ENST00000462047.1:n.326T>C
ENST00000462990.5:c.98T>C	ENSP00000470504.1:p.Leu33Pro
NM_014225.5:c.635T>C	NP_055040.2:p.Leu212Pro
NR_033500.1:n.829T>C
NM_001363656.1:c.98T>C	NP_001350585.1:p.Leu33Pro
NM_014225.6:c.635T>C MANE Select	NP_055040.2:p.Leu212Pro
NM_001363656.2:c.98T>C	NP_001350585.1:p.Leu33Pro
NR_033500.2:n.579T>C