Canonical Allele Identifier: CA407184265

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212958T>C , CM000681.2:g.52212958T>C	GRCh38
NC_000019.9:g.52716211T>C , CM000681.1:g.52716211T>C	GRCh37
NC_000019.8:g.57408023T>C	NCBI36
NG_047068.1:g.28157T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.655T>C MANE Select	NP_055040.2:p.Ser219Pro
ENST00000322088.11:c.655T>C MANE Select	ENSP00000324804.6:p.Ser219Pro
NM_001363656.1:c.118T>C	NP_001350585.1:p.Ser40Pro
NM_001363656.2:c.118T>C	NP_001350585.1:p.Ser40Pro
NM_014225.5:c.655T>C	NP_055040.2:p.Ser219Pro
NR_033500.1:n.849T>C
NR_033500.2:n.599T>C
ENST00000322088.10:c.655T>C	ENSP00000324804.6:p.Ser219Pro
ENST00000454220.6:c.775T>C	ENSP00000391905.2:p.Ser259Pro
ENST00000454220.7:c.775T>C	ENSP00000391905.3:p.Ser259Pro
ENST00000462047.1:n.346T>C
ENST00000462990.5:c.118T>C	ENSP00000470504.1:p.Ser40Pro
ENST00000473820.1:n.129T>C
ENST00000703395.1:c.118T>C	ENSP00000515286.1:p.Ser40Pro
ENST00000703397.1:c.118T>C	ENSP00000515287.1:p.Ser40Pro
ENST00000703398.1:c.697T>C	ENSP00000515288.1:p.Ser233Pro
ENST00000703421.1:n.929T>C
ENST00000703422.1:c.631T>C	ENSP00000515292.1:p.Ser211Pro
ENST00000703423.1:c.118T>C	ENSP00000515293.1:p.Ser40Pro