Canonical Allele Identifier: CA2576874200

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122336334
• gnomAD v4: 19-52212853-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212853C>T , CM000681.2:g.52212853C>T	GRCh38
NC_000019.9:g.52716106C>T , CM000681.1:g.52716106C>T	GRCh37
NC_000019.8:g.57407918C>T	NCBI36
NG_047068.1:g.28052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.771+20C>T	ENSP00000391905.3:n.771+20C>T
ENST00000703395.1:c.114+20C>T	ENSP00000515286.1:n.114+20C>T
ENST00000703396.1:n.615C>T
ENST00000703397.1:c.114+20C>T	ENSP00000515287.1:n.114+20C>T
ENST00000703398.1:c.693+20C>T	ENSP00000515288.1:n.693+20C>T
ENST00000703421.1:n.824C>T
ENST00000703422.1:c.627+20C>T	ENSP00000515292.1:n.627+20C>T
ENST00000703423.1:c.114+20C>T	ENSP00000515293.1:n.114+20C>T
ENST00000322088.11:c.651+20C>T MANE Select	ENSP00000324804.6:n.651+20C>T
ENST00000322088.10:c.651+20C>T	ENSP00000324804.6:n.651+20C>T
ENST00000454220.6:c.771+20C>T	ENSP00000391905.2:n.771+20C>T
ENST00000462047.1:n.342+20C>T
ENST00000462990.5:c.114+20C>T	ENSP00000470504.1:n.114+20C>T
ENST00000473820.1:n.24C>T
NM_014225.5:c.651+20C>T	NP_055040.2:n.651+20C>T
NR_033500.1:n.845+20C>T
NM_001363656.1:c.114+20C>T	NP_001350585.1:n.114+20C>T
NM_014225.6:c.651+20C>T MANE Select	NP_055040.2:n.651+20C>T
NM_001363656.2:c.114+20C>T	NP_001350585.1:n.114+20C>T
NR_033500.2:n.595+20C>T