Canonical Allele Identifier: CA309865870

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2876770
• ClinVar RCV Id: RCV003712486
• dbSNP Id: rs1029209344
• gnomAD v2: 19-52715947-G-A
• gnomAD v3: 19-52212694-G-A
• gnomAD v4: 19-52212694-G-A
• MyVariant Identifiers: chr19:g.52715947G>A (hg19) ; chr19:g.52212694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212694G>A , CM000681.2:g.52212694G>A	GRCh38
NC_000019.9:g.52715947G>A , CM000681.1:g.52715947G>A	GRCh37
NC_000019.8:g.57407759G>A	NCBI36
NG_047068.1:g.27893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.632G>A	ENSP00000391905.3:p.Arg211Gln
ENST00000703395.1:c.-26G>A	ENSP00000515286.1:n.-26G>A
ENST00000703396.1:n.456G>A
ENST00000703397.1:c.-26G>A	ENSP00000515287.1:n.-26G>A
ENST00000703398.1:c.554G>A	ENSP00000515288.1:p.Arg185Gln
ENST00000703421.1:n.665G>A
ENST00000703422.1:c.488G>A	ENSP00000515292.1:p.Arg163Gln
ENST00000703423.1:c.-26G>A	ENSP00000515293.1:n.-26G>A
ENST00000322088.11:c.512G>A MANE Select	ENSP00000324804.6:p.Arg171Gln
ENST00000322088.10:c.512G>A	ENSP00000324804.6:p.Arg171Gln
ENST00000454220.6:c.632G>A	ENSP00000391905.2:p.Arg211Gln
ENST00000462047.1:n.203G>A
ENST00000462990.5:c.-26G>A	ENSP00000470504.1:n.-26G>A
ENST00000473455.2:n.611G>A
NM_014225.5:c.512G>A	NP_055040.2:p.Arg171Gln
NR_033500.1:n.706G>A
NM_001363656.1:c.-26G>A	NP_001350585.1:n.-26G>A
NM_014225.6:c.512G>A MANE Select	NP_055040.2:p.Arg171Gln
NM_001363656.2:c.-26G>A	NP_001350585.1:n.-26G>A
NR_033500.2:n.456G>A