Canonical Allele Identifier: CA2586787381

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212632-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212632G>C , CM000681.2:g.52212632G>C	GRCh38
NC_000019.9:g.52715885G>C , CM000681.1:g.52715885G>C	GRCh37
NC_000019.8:g.57407697G>C	NCBI36
NG_047068.1:g.27831G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.624-54G>C	ENSP00000391905.3:n.624-54G>C
ENST00000703395.1:c.-34-54G>C	ENSP00000515286.1:n.-34-54G>C
ENST00000703396.1:n.448-54G>C
ENST00000703397.1:c.-34-54G>C	ENSP00000515287.1:n.-34-54G>C
ENST00000703398.1:c.546-54G>C	ENSP00000515288.1:n.546-54G>C
ENST00000703421.1:n.657-54G>C
ENST00000703422.1:c.480-54G>C	ENSP00000515292.1:n.480-54G>C
ENST00000703423.1:c.-34-54G>C	ENSP00000515293.1:n.-34-54G>C
ENST00000322088.11:c.504-54G>C MANE Select	ENSP00000324804.6:n.504-54G>C
ENST00000322088.10:c.504-54G>C	ENSP00000324804.6:n.504-54G>C
ENST00000454220.6:c.624-54G>C	ENSP00000391905.2:n.624-54G>C
ENST00000462047.1:n.141G>C
ENST00000462990.5:c.-34-54G>C	ENSP00000470504.1:n.-34-54G>C
ENST00000473455.2:n.603-54G>C
NM_014225.5:c.504-54G>C	NP_055040.2:n.504-54G>C
NR_033500.1:n.698-54G>C
NM_001363656.1:c.-34-54G>C	NP_001350585.1:n.-34-54G>C
NM_014225.6:c.504-54G>C MANE Select	NP_055040.2:n.504-54G>C
NM_001363656.2:c.-34-54G>C	NP_001350585.1:n.-34-54G>C
NR_033500.2:n.448-54G>C