Canonical Allele Identifier: CA407183728

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2701846
• ClinVar RCV Id: RCV003549894
• gnomAD v4: 19-52212758-T-G
• MyVariant Identifiers: chr19:g.52716011T>G (hg19) ; chr19:g.52212758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212758T>G , CM000681.2:g.52212758T>G	GRCh38
NC_000019.9:g.52716011T>G , CM000681.1:g.52716011T>G	GRCh37
NC_000019.8:g.57407823T>G	NCBI36
NG_047068.1:g.27957T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.696T>G	ENSP00000391905.3:p.Phe232Leu
ENST00000703395.1:c.39T>G	ENSP00000515286.1:p.Phe13Leu
ENST00000703396.1:n.520T>G
ENST00000703397.1:c.39T>G	ENSP00000515287.1:p.Phe13Leu
ENST00000703398.1:c.618T>G	ENSP00000515288.1:p.Phe206Leu
ENST00000703421.1:n.729T>G
ENST00000703422.1:c.552T>G	ENSP00000515292.1:p.Phe184Leu
ENST00000703423.1:c.39T>G	ENSP00000515293.1:p.Phe13Leu
ENST00000322088.11:c.576T>G MANE Select	ENSP00000324804.6:p.Phe192Leu
ENST00000322088.10:c.576T>G	ENSP00000324804.6:p.Phe192Leu
ENST00000454220.6:c.696T>G	ENSP00000391905.2:p.Phe232Leu
ENST00000462047.1:n.267T>G
ENST00000462990.5:c.39T>G	ENSP00000470504.1:p.Phe13Leu
NM_014225.5:c.576T>G	NP_055040.2:p.Phe192Leu
NR_033500.1:n.770T>G
NM_001363656.1:c.39T>G	NP_001350585.1:p.Phe13Leu
NM_014225.6:c.576T>G MANE Select	NP_055040.2:p.Phe192Leu
NM_001363656.2:c.39T>G	NP_001350585.1:p.Phe13Leu
NR_033500.2:n.520T>G