Canonical Allele Identifier: CA407183496

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2430276
• ClinVar RCV Id: RCV003128303
• MyVariant Identifiers: chr19:g.52715967A>G (hg19) ; chr19:g.52212714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212714A>G , CM000681.2:g.52212714A>G	GRCh38
NC_000019.9:g.52715967A>G , CM000681.1:g.52715967A>G	GRCh37
NC_000019.8:g.57407779A>G	NCBI36
NG_047068.1:g.27913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.652A>G	ENSP00000391905.3:p.Thr218Ala
ENST00000703395.1:c.-6A>G	ENSP00000515286.1:n.-6A>G
ENST00000703396.1:n.476A>G
ENST00000703397.1:c.-6A>G	ENSP00000515287.1:n.-6A>G
ENST00000703398.1:c.574A>G	ENSP00000515288.1:p.Thr192Ala
ENST00000703421.1:n.685A>G
ENST00000703422.1:c.508A>G	ENSP00000515292.1:p.Thr170Ala
ENST00000703423.1:c.-6A>G	ENSP00000515293.1:n.-6A>G
ENST00000322088.11:c.532A>G MANE Select	ENSP00000324804.6:p.Thr178Ala
ENST00000322088.10:c.532A>G	ENSP00000324804.6:p.Thr178Ala
ENST00000454220.6:c.652A>G	ENSP00000391905.2:p.Thr218Ala
ENST00000462047.1:n.223A>G
ENST00000462990.5:c.-6A>G	ENSP00000470504.1:n.-6A>G
NM_014225.5:c.532A>G	NP_055040.2:p.Thr178Ala
NR_033500.1:n.726A>G
NM_001363656.1:c.-6A>G	NP_001350585.1:n.-6A>G
NM_014225.6:c.532A>G MANE Select	NP_055040.2:p.Thr178Ala
NM_001363656.2:c.-6A>G	NP_001350585.1:n.-6A>G
NR_033500.2:n.476A>G