Canonical Allele Identifier: CA407183476

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212711-G-T
• MyVariant Identifiers: chr19:g.52715964G>T (hg19) ; chr19:g.52212711G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212711G>T , CM000681.2:g.52212711G>T	GRCh38
NC_000019.9:g.52715964G>T , CM000681.1:g.52715964G>T	GRCh37
NC_000019.8:g.57407776G>T	NCBI36
NG_047068.1:g.27910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.649G>T	ENSP00000391905.3:p.Asp217Tyr
ENST00000703395.1:c.-9G>T	ENSP00000515286.1:n.-9G>T
ENST00000703396.1:n.473G>T
ENST00000703397.1:c.-9G>T	ENSP00000515287.1:n.-9G>T
ENST00000703398.1:c.571G>T	ENSP00000515288.1:p.Asp191Tyr
ENST00000703421.1:n.682G>T
ENST00000703422.1:c.505G>T	ENSP00000515292.1:p.Asp169Tyr
ENST00000703423.1:c.-9G>T	ENSP00000515293.1:n.-9G>T
ENST00000322088.11:c.529G>T MANE Select	ENSP00000324804.6:p.Asp177Tyr
ENST00000322088.10:c.529G>T	ENSP00000324804.6:p.Asp177Tyr
ENST00000454220.6:c.649G>T	ENSP00000391905.2:p.Asp217Tyr
ENST00000462047.1:n.220G>T
ENST00000462990.5:c.-9G>T	ENSP00000470504.1:n.-9G>T
NM_014225.5:c.529G>T	NP_055040.2:p.Asp177Tyr
NR_033500.1:n.723G>T
NM_001363656.1:c.-9G>T	NP_001350585.1:n.-9G>T
NM_014225.6:c.529G>T MANE Select	NP_055040.2:p.Asp177Tyr
NM_001363656.2:c.-9G>T	NP_001350585.1:n.-9G>T
NR_033500.2:n.473G>T