Canonical Allele Identifier: CA508826443

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122335317
• gnomAD v4: 19-52212770-G-A
• MyVariant Identifiers: chr19:g.52716023G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212770G>A , CM000681.2:g.52212770G>A	GRCh38
NC_000019.9:g.52716023G>A , CM000681.1:g.52716023G>A	GRCh37
NC_000019.8:g.57407835G>A	NCBI36
NG_047068.1:g.27969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.708G>A	ENSP00000391905.3:p.Leu236=
ENST00000703395.1:c.51G>A	ENSP00000515286.1:p.Leu17=
ENST00000703396.1:n.532G>A
ENST00000703397.1:c.51G>A	ENSP00000515287.1:p.Leu17=
ENST00000703398.1:c.630G>A	ENSP00000515288.1:p.Leu210=
ENST00000703421.1:n.741G>A
ENST00000703422.1:c.564G>A	ENSP00000515292.1:p.Leu188=
ENST00000703423.1:c.51G>A	ENSP00000515293.1:p.Leu17=
ENST00000322088.11:c.588G>A MANE Select	ENSP00000324804.6:p.Leu196=
ENST00000322088.10:c.588G>A	ENSP00000324804.6:p.Leu196=
ENST00000454220.6:c.708G>A	ENSP00000391905.2:p.Leu236=
ENST00000462047.1:n.279G>A
ENST00000462990.5:c.51G>A	ENSP00000470504.1:p.Leu17=
NM_014225.5:c.588G>A	NP_055040.2:p.Leu196=
NR_033500.1:n.782G>A
NM_001363656.1:c.51G>A	NP_001350585.1:p.Leu17=
NM_014225.6:c.588G>A MANE Select	NP_055040.2:p.Leu196=
NM_001363656.2:c.51G>A	NP_001350585.1:p.Leu17=
NR_033500.2:n.532G>A