Canonical Allele Identifier: CA309851931

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2821072
• ClinVar RCV Id: RCV003709482
• dbSNP Id: rs1045800330
• gnomAD v4: 19-52190192-G-T
• MyVariant Identifiers: chr19:g.52693445G>T (hg19) ; chr19:g.52190192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190192G>T , CM000681.2:g.52190192G>T	GRCh38
NC_000019.9:g.52693445G>T , CM000681.1:g.52693445G>T	GRCh37
NC_000019.8:g.57385257G>T	NCBI36
NG_047068.1:g.5391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.96G>T	ENSP00000391905.3:p.Gly32=
ENST00000703395.1:c.-459-11752G>T	ENSP00000515286.1:n.-459-11752G>T
ENST00000703396.1:n.123+18G>T
ENST00000703397.1:c.-657+18G>T	ENSP00000515287.1:n.-657+18G>T
ENST00000703398.1:c.78+18G>T	ENSP00000515288.1:n.78+18G>T
ENST00000703421.1:n.231+1036G>T
ENST00000703422.1:c.78+18G>T	ENSP00000515292.1:n.78+18G>T
ENST00000322088.11:c.78+18G>T MANE Select	ENSP00000324804.6:n.78+18G>T
ENST00000322088.10:c.78+18G>T	ENSP00000324804.6:n.78+18G>T
ENST00000454220.6:c.96G>T	ENSP00000391905.2:p.Gly32=
ENST00000468280.5:n.61+18G>T
ENST00000477989.1:c.78+18G>T	ENSP00000471298.1:n.78+18G>T
ENST00000490868.5:c.78+18G>T	ENSP00000469150.1:n.78+18G>T
ENST00000628959.1:c.78+18G>T	ENSP00000485914.1:n.78+18G>T
NM_014225.5:c.78+18G>T	NP_055040.2:n.78+18G>T
NR_033500.1:n.373+18G>T
NM_014225.6:c.78+18G>T MANE Select	NP_055040.2:n.78+18G>T
NR_033500.2:n.123+18G>T