Canonical Allele Identifier: CA407183749

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122335222
• MyVariant Identifiers: chr19:g.52716015A>G (hg19) ; chr19:g.52212762A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212762A>G , CM000681.2:g.52212762A>G	GRCh38
NC_000019.9:g.52716015A>G , CM000681.1:g.52716015A>G	GRCh37
NC_000019.8:g.57407827A>G	NCBI36
NG_047068.1:g.27961A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.700A>G	ENSP00000391905.3:p.Lys234Glu
ENST00000703395.1:c.43A>G	ENSP00000515286.1:p.Lys15Glu
ENST00000703396.1:n.524A>G
ENST00000703397.1:c.43A>G	ENSP00000515287.1:p.Lys15Glu
ENST00000703398.1:c.622A>G	ENSP00000515288.1:p.Lys208Glu
ENST00000703421.1:n.733A>G
ENST00000703422.1:c.556A>G	ENSP00000515292.1:p.Lys186Glu
ENST00000703423.1:c.43A>G	ENSP00000515293.1:p.Lys15Glu
ENST00000322088.11:c.580A>G MANE Select	ENSP00000324804.6:p.Lys194Glu
ENST00000322088.10:c.580A>G	ENSP00000324804.6:p.Lys194Glu
ENST00000454220.6:c.700A>G	ENSP00000391905.2:p.Lys234Glu
ENST00000462047.1:n.271A>G
ENST00000462990.5:c.43A>G	ENSP00000470504.1:p.Lys15Glu
NM_014225.5:c.580A>G	NP_055040.2:p.Lys194Glu
NR_033500.1:n.774A>G
NM_001363656.1:c.43A>G	NP_001350585.1:p.Lys15Glu
NM_014225.6:c.580A>G MANE Select	NP_055040.2:p.Lys194Glu
NM_001363656.2:c.43A>G	NP_001350585.1:p.Lys15Glu
NR_033500.2:n.524A>G