Canonical Allele Identifier: CA407183469

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122334494
• MyVariant Identifiers: chr19:g.52715962A>C (hg19) ; chr19:g.52212709A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212709A>C , CM000681.2:g.52212709A>C	GRCh38
NC_000019.9:g.52715962A>C , CM000681.1:g.52715962A>C	GRCh37
NC_000019.8:g.57407774A>C	NCBI36
NG_047068.1:g.27908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.647A>C	ENSP00000391905.3:p.Asp216Ala
ENST00000703395.1:c.-11A>C	ENSP00000515286.1:n.-11A>C
ENST00000703396.1:n.471A>C
ENST00000703397.1:c.-11A>C	ENSP00000515287.1:n.-11A>C
ENST00000703398.1:c.569A>C	ENSP00000515288.1:p.Asp190Ala
ENST00000703421.1:n.680A>C
ENST00000703422.1:c.503A>C	ENSP00000515292.1:p.Asp168Ala
ENST00000703423.1:c.-11A>C	ENSP00000515293.1:n.-11A>C
ENST00000322088.11:c.527A>C MANE Select	ENSP00000324804.6:p.Asp176Ala
ENST00000322088.10:c.527A>C	ENSP00000324804.6:p.Asp176Ala
ENST00000454220.6:c.647A>C	ENSP00000391905.2:p.Asp216Ala
ENST00000462047.1:n.218A>C
ENST00000462990.5:c.-11A>C	ENSP00000470504.1:n.-11A>C
NM_014225.5:c.527A>C	NP_055040.2:p.Asp176Ala
NR_033500.1:n.721A>C
NM_001363656.1:c.-11A>C	NP_001350585.1:n.-11A>C
NM_014225.6:c.527A>C MANE Select	NP_055040.2:p.Asp176Ala
NM_001363656.2:c.-11A>C	NP_001350585.1:n.-11A>C
NR_033500.2:n.471A>C