Canonical Allele Identifier: CA508826541

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2089438506
• gnomAD v4: 19-52190156-C-A
• MyVariant Identifiers: chr19:g.52693409C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190156C>A , CM000681.2:g.52190156C>A	GRCh38
NC_000019.9:g.52693409C>A , CM000681.1:g.52693409C>A	GRCh37
NC_000019.8:g.57385221C>A	NCBI36
NG_047068.1:g.5355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.60C>A	ENSP00000391905.3:p.Leu20=
ENST00000703395.1:c.-459-11788C>A	ENSP00000515286.1:n.-459-11788C>A
ENST00000703396.1:n.105C>A
ENST00000703397.1:c.-675C>A	ENSP00000515287.1:n.-675C>A
ENST00000703398.1:c.60C>A	ENSP00000515288.1:p.Leu20=
ENST00000703421.1:n.231+1000C>A
ENST00000703422.1:c.60C>A	ENSP00000515292.1:p.Leu20=
ENST00000322088.11:c.60C>A MANE Select	ENSP00000324804.6:p.Leu20=
ENST00000322088.10:c.60C>A	ENSP00000324804.6:p.Leu20=
ENST00000454220.6:c.60C>A	ENSP00000391905.2:p.Leu20=
ENST00000468280.5:n.43C>A
ENST00000477989.1:c.60C>A	ENSP00000471298.1:p.Leu20=
ENST00000490868.5:c.60C>A	ENSP00000469150.1:p.Leu20=
ENST00000628959.1:c.60C>A	ENSP00000485914.1:p.Leu20=
NM_014225.5:c.60C>A	NP_055040.2:p.Leu20=
NR_033500.1:n.355C>A
NM_014225.6:c.60C>A MANE Select	NP_055040.2:p.Leu20=
NR_033500.2:n.105C>A