Canonical Allele Identifier: CA309851997

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs543135221
• gnomAD v3: 19-52190239-G-A
• gnomAD v4: 19-52190239-G-A
• MyVariant Identifiers: chr19:g.52693492G>A (hg19) ; chr19:g.52190239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190239G>A , CM000681.2:g.52190239G>A	GRCh38
NC_000019.9:g.52693492G>A , CM000681.1:g.52693492G>A	GRCh37
NC_000019.8:g.57385304G>A	NCBI36
NG_047068.1:g.5438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.143G>A	ENSP00000391905.3:p.Arg48His
ENST00000703395.1:c.-459-11705G>A	ENSP00000515286.1:n.-459-11705G>A
ENST00000703396.1:n.123+65G>A
ENST00000703397.1:c.-657+65G>A	ENSP00000515287.1:n.-657+65G>A
ENST00000703398.1:c.78+65G>A	ENSP00000515288.1:n.78+65G>A
ENST00000703421.1:n.231+1083G>A
ENST00000703422.1:c.78+65G>A	ENSP00000515292.1:n.78+65G>A
ENST00000322088.11:c.78+65G>A MANE Select	ENSP00000324804.6:n.78+65G>A
ENST00000322088.10:c.78+65G>A	ENSP00000324804.6:n.78+65G>A
ENST00000454220.6:c.143G>A	ENSP00000391905.2:p.Arg48His
ENST00000468280.5:n.61+65G>A
ENST00000477989.1:c.78+65G>A	ENSP00000471298.1:n.78+65G>A
ENST00000490868.5:c.78+65G>A	ENSP00000469150.1:n.78+65G>A
ENST00000628959.1:c.78+65G>A	ENSP00000485914.1:n.78+65G>A
NM_014225.5:c.78+65G>A	NP_055040.2:n.78+65G>A
NR_033500.1:n.373+65G>A
NM_014225.6:c.78+65G>A MANE Select	NP_055040.2:n.78+65G>A
NR_033500.2:n.123+65G>A