Canonical Allele Identifier: CA407183440

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122334405
• MyVariant Identifiers: chr19:g.52715956G>T (hg19) ; chr19:g.52212703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212703G>T , CM000681.2:g.52212703G>T	GRCh38
NC_000019.9:g.52715956G>T , CM000681.1:g.52715956G>T	GRCh37
NC_000019.8:g.57407768G>T	NCBI36
NG_047068.1:g.27902G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.641G>T	ENSP00000391905.3:p.Cys214Phe
ENST00000703395.1:c.-17G>T	ENSP00000515286.1:n.-17G>T
ENST00000703396.1:n.465G>T
ENST00000703397.1:c.-17G>T	ENSP00000515287.1:n.-17G>T
ENST00000703398.1:c.563G>T	ENSP00000515288.1:p.Cys188Phe
ENST00000703421.1:n.674G>T
ENST00000703422.1:c.497G>T	ENSP00000515292.1:p.Cys166Phe
ENST00000703423.1:c.-17G>T	ENSP00000515293.1:n.-17G>T
ENST00000322088.11:c.521G>T MANE Select	ENSP00000324804.6:p.Cys174Phe
ENST00000322088.10:c.521G>T	ENSP00000324804.6:p.Cys174Phe
ENST00000454220.6:c.641G>T	ENSP00000391905.2:p.Cys214Phe
ENST00000462047.1:n.212G>T
ENST00000462990.5:c.-17G>T	ENSP00000470504.1:n.-17G>T
NM_014225.5:c.521G>T	NP_055040.2:p.Cys174Phe
NR_033500.1:n.715G>T
NM_001363656.1:c.-17G>T	NP_001350585.1:n.-17G>T
NM_014225.6:c.521G>T MANE Select	NP_055040.2:p.Cys174Phe
NM_001363656.2:c.-17G>T	NP_001350585.1:n.-17G>T
NR_033500.2:n.465G>T