Canonical Allele Identifier: CA508826429

Gene: PPP2R1A

Linked Data

• MyVariant Identifiers: chr19:g.52716002G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212749G>T , CM000681.2:g.52212749G>T	GRCh38
NC_000019.9:g.52716002G>T , CM000681.1:g.52716002G>T	GRCh37
NC_000019.8:g.57407814G>T	NCBI36
NG_047068.1:g.27948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.687G>T	ENSP00000391905.3:p.Leu229=
ENST00000703395.1:c.30G>T	ENSP00000515286.1:p.Leu10=
ENST00000703396.1:n.511G>T
ENST00000703397.1:c.30G>T	ENSP00000515287.1:p.Leu10=
ENST00000703398.1:c.609G>T	ENSP00000515288.1:p.Leu203=
ENST00000703421.1:n.720G>T
ENST00000703422.1:c.543G>T	ENSP00000515292.1:p.Leu181=
ENST00000703423.1:c.30G>T	ENSP00000515293.1:p.Leu10=
ENST00000322088.11:c.567G>T MANE Select	ENSP00000324804.6:p.Leu189=
ENST00000322088.10:c.567G>T	ENSP00000324804.6:p.Leu189=
ENST00000454220.6:c.687G>T	ENSP00000391905.2:p.Leu229=
ENST00000462047.1:n.258G>T
ENST00000462990.5:c.30G>T	ENSP00000470504.1:p.Leu10=
NM_014225.5:c.567G>T	NP_055040.2:p.Leu189=
NR_033500.1:n.761G>T
NM_001363656.1:c.30G>T	NP_001350585.1:p.Leu10=
NM_014225.6:c.567G>T MANE Select	NP_055040.2:p.Leu189=
NM_001363656.2:c.30G>T	NP_001350585.1:p.Leu10=
NR_033500.2:n.511G>T