Canonical Allele Identifier: CA407183988

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122335724
• MyVariant Identifiers: chr19:g.52716055C>A (hg19) ; chr19:g.52212802C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212802C>A , CM000681.2:g.52212802C>A	GRCh38
NC_000019.9:g.52716055C>A , CM000681.1:g.52716055C>A	GRCh37
NC_000019.8:g.57407867C>A	NCBI36
NG_047068.1:g.28001C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.740C>A	ENSP00000391905.3:p.Pro247His
ENST00000703395.1:c.83C>A	ENSP00000515286.1:p.Pro28His
ENST00000703396.1:n.564C>A
ENST00000703397.1:c.83C>A	ENSP00000515287.1:p.Pro28His
ENST00000703398.1:c.662C>A	ENSP00000515288.1:p.Pro221His
ENST00000703421.1:n.773C>A
ENST00000703422.1:c.596C>A	ENSP00000515292.1:p.Pro199His
ENST00000703423.1:c.83C>A	ENSP00000515293.1:p.Pro28His
ENST00000322088.11:c.620C>A MANE Select	ENSP00000324804.6:p.Pro207His
ENST00000322088.10:c.620C>A	ENSP00000324804.6:p.Pro207His
ENST00000454220.6:c.740C>A	ENSP00000391905.2:p.Pro247His
ENST00000462047.1:n.311C>A
ENST00000462990.5:c.83C>A	ENSP00000470504.1:p.Pro28His
NM_014225.5:c.620C>A	NP_055040.2:p.Pro207His
NR_033500.1:n.814C>A
NM_001363656.1:c.83C>A	NP_001350585.1:p.Pro28His
NM_014225.6:c.620C>A MANE Select	NP_055040.2:p.Pro207His
NM_001363656.2:c.83C>A	NP_001350585.1:p.Pro28His
NR_033500.2:n.564C>A