Canonical Allele Identifier: CA407178892

Gene: PPP2R1A

Linked Data

• MyVariant Identifiers: chr19:g.52693499A>C (hg19) ; chr19:g.52190246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190246A>C , CM000681.2:g.52190246A>C	GRCh38
NC_000019.9:g.52693499A>C , CM000681.1:g.52693499A>C	GRCh37
NC_000019.8:g.57385311A>C	NCBI36
NG_047068.1:g.5445A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.150A>C	ENSP00000391905.3:p.Glu50Asp
ENST00000703395.1:c.-459-11698A>C	ENSP00000515286.1:n.-459-11698A>C
ENST00000703396.1:n.123+72A>C
ENST00000703397.1:c.-657+72A>C	ENSP00000515287.1:n.-657+72A>C
ENST00000703398.1:c.78+72A>C	ENSP00000515288.1:n.78+72A>C
ENST00000703421.1:n.231+1090A>C
ENST00000703422.1:c.78+72A>C	ENSP00000515292.1:n.78+72A>C
ENST00000322088.11:c.78+72A>C MANE Select	ENSP00000324804.6:n.78+72A>C
ENST00000322088.10:c.78+72A>C	ENSP00000324804.6:n.78+72A>C
ENST00000454220.6:c.150A>C	ENSP00000391905.2:p.Glu50Asp
ENST00000468280.5:n.61+72A>C
ENST00000477989.1:c.78+72A>C	ENSP00000471298.1:n.78+72A>C
ENST00000490868.5:c.78+72A>C	ENSP00000469150.1:n.78+72A>C
ENST00000628959.1:c.78+72A>C	ENSP00000485914.1:n.78+72A>C
NM_014225.5:c.78+72A>C	NP_055040.2:n.78+72A>C
NR_033500.1:n.373+72A>C
NM_014225.6:c.78+72A>C MANE Select	NP_055040.2:n.78+72A>C
NR_033500.2:n.123+72A>C