Canonical Allele Identifier: CA2586787382

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212634-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212634T>C , CM000681.2:g.52212634T>C	GRCh38
NC_000019.9:g.52715887T>C , CM000681.1:g.52715887T>C	GRCh37
NC_000019.8:g.57407699T>C	NCBI36
NG_047068.1:g.27833T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000454220.7:c.624-52T>C	ENSP00000391905.3:n.624-52T>C
ENST00000703395.1:c.-34-52T>C	ENSP00000515286.1:n.-34-52T>C
ENST00000703396.1:n.448-52T>C
ENST00000703397.1:c.-34-52T>C	ENSP00000515287.1:n.-34-52T>C
ENST00000703398.1:c.546-52T>C	ENSP00000515288.1:n.546-52T>C
ENST00000703421.1:n.657-52T>C
ENST00000703422.1:c.480-52T>C	ENSP00000515292.1:n.480-52T>C
ENST00000703423.1:c.-34-52T>C	ENSP00000515293.1:n.-34-52T>C
ENST00000322088.11:c.504-52T>C MANE Select	ENSP00000324804.6:n.504-52T>C
ENST00000322088.10:c.504-52T>C	ENSP00000324804.6:n.504-52T>C
ENST00000454220.6:c.624-52T>C	ENSP00000391905.2:n.624-52T>C
ENST00000462047.1:n.143T>C
ENST00000462990.5:c.-34-52T>C	ENSP00000470504.1:n.-34-52T>C
ENST00000473455.2:n.603-52T>C
NM_014225.5:c.504-52T>C	NP_055040.2:n.504-52T>C
NR_033500.1:n.698-52T>C
NM_001363656.1:c.-34-52T>C	NP_001350585.1:n.-34-52T>C
NM_014225.6:c.504-52T>C MANE Select	NP_055040.2:n.504-52T>C
NM_001363656.2:c.-34-52T>C	NP_001350585.1:n.-34-52T>C
NR_033500.2:n.448-52T>C