Canonical Allele Identifier: CA407183636

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1993280
• ClinVar RCV Id: RCV002801275
• MyVariant Identifiers: chr19:g.52715997A>C (hg19) ; chr19:g.52212744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212744A>C , CM000681.2:g.52212744A>C	GRCh38
NC_000019.9:g.52715997A>C , CM000681.1:g.52715997A>C	GRCh37
NC_000019.8:g.57407809A>C	NCBI36
NG_047068.1:g.27943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.682A>C	ENSP00000391905.3:p.Lys228Gln
ENST00000703395.1:c.25A>C	ENSP00000515286.1:p.Lys9Gln
ENST00000703396.1:n.506A>C
ENST00000703397.1:c.25A>C	ENSP00000515287.1:p.Lys9Gln
ENST00000703398.1:c.604A>C	ENSP00000515288.1:p.Lys202Gln
ENST00000703421.1:n.715A>C
ENST00000703422.1:c.538A>C	ENSP00000515292.1:p.Lys180Gln
ENST00000703423.1:c.25A>C	ENSP00000515293.1:p.Lys9Gln
ENST00000322088.11:c.562A>C MANE Select	ENSP00000324804.6:p.Lys188Gln
ENST00000322088.10:c.562A>C	ENSP00000324804.6:p.Lys188Gln
ENST00000454220.6:c.682A>C	ENSP00000391905.2:p.Lys228Gln
ENST00000462047.1:n.253A>C
ENST00000462990.5:c.25A>C	ENSP00000470504.1:p.Lys9Gln
NM_014225.5:c.562A>C	NP_055040.2:p.Lys188Gln
NR_033500.1:n.756A>C
NM_001363656.1:c.25A>C	NP_001350585.1:p.Lys9Gln
NM_014225.6:c.562A>C MANE Select	NP_055040.2:p.Lys188Gln
NM_001363656.2:c.25A>C	NP_001350585.1:p.Lys9Gln
NR_033500.2:n.506A>C