Canonical Allele Identifier: CA407183359

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212689-C-G
• MyVariant Identifiers: chr19:g.52715942C>G (hg19) ; chr19:g.52212689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212689C>G , CM000681.2:g.52212689C>G	GRCh38
NC_000019.9:g.52715942C>G , CM000681.1:g.52715942C>G	GRCh37
NC_000019.8:g.57407754C>G	NCBI36
NG_047068.1:g.27888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.627C>G	ENSP00000391905.3:p.Tyr209Ter
ENST00000703395.1:c.-31C>G	ENSP00000515286.1:n.-31C>G
ENST00000703396.1:n.451C>G
ENST00000703397.1:c.-31C>G	ENSP00000515287.1:n.-31C>G
ENST00000703398.1:c.549C>G	ENSP00000515288.1:p.Tyr183Ter
ENST00000703421.1:n.660C>G
ENST00000703422.1:c.483C>G	ENSP00000515292.1:p.Tyr161Ter
ENST00000703423.1:c.-31C>G	ENSP00000515293.1:n.-31C>G
ENST00000322088.11:c.507C>G MANE Select	ENSP00000324804.6:p.Tyr169Ter
ENST00000322088.10:c.507C>G	ENSP00000324804.6:p.Tyr169Ter
ENST00000454220.6:c.627C>G	ENSP00000391905.2:p.Tyr209Ter
ENST00000462047.1:n.198C>G
ENST00000462990.5:c.-31C>G	ENSP00000470504.1:n.-31C>G
ENST00000473455.2:n.606C>G
NM_014225.5:c.507C>G	NP_055040.2:p.Tyr169Ter
NR_033500.1:n.701C>G
NM_001363656.1:c.-31C>G	NP_001350585.1:n.-31C>G
NM_014225.6:c.507C>G MANE Select	NP_055040.2:p.Tyr169Ter
NM_001363656.2:c.-31C>G	NP_001350585.1:n.-31C>G
NR_033500.2:n.451C>G