Canonical Allele Identifier: CA407183669

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2050771
• ClinVar RCV Id: RCV002904613
• dbSNP Id: rs2122335090
• MyVariant Identifiers: chr19:g.52716003G>T (hg19) ; chr19:g.52212750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212750G>T , CM000681.2:g.52212750G>T	GRCh38
NC_000019.9:g.52716003G>T , CM000681.1:g.52716003G>T	GRCh37
NC_000019.8:g.57407815G>T	NCBI36
NG_047068.1:g.27949G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.688G>T	ENSP00000391905.3:p.Gly230Trp
ENST00000703395.1:c.31G>T	ENSP00000515286.1:p.Gly11Trp
ENST00000703396.1:n.512G>T
ENST00000703397.1:c.31G>T	ENSP00000515287.1:p.Gly11Trp
ENST00000703398.1:c.610G>T	ENSP00000515288.1:p.Gly204Trp
ENST00000703421.1:n.721G>T
ENST00000703422.1:c.544G>T	ENSP00000515292.1:p.Gly182Trp
ENST00000703423.1:c.31G>T	ENSP00000515293.1:p.Gly11Trp
ENST00000322088.11:c.568G>T MANE Select	ENSP00000324804.6:p.Gly190Trp
ENST00000322088.10:c.568G>T	ENSP00000324804.6:p.Gly190Trp
ENST00000454220.6:c.688G>T	ENSP00000391905.2:p.Gly230Trp
ENST00000462047.1:n.259G>T
ENST00000462990.5:c.31G>T	ENSP00000470504.1:p.Gly11Trp
NM_014225.5:c.568G>T	NP_055040.2:p.Gly190Trp
NR_033500.1:n.762G>T
NM_001363656.1:c.31G>T	NP_001350585.1:p.Gly11Trp
NM_014225.6:c.568G>T MANE Select	NP_055040.2:p.Gly190Trp
NM_001363656.2:c.31G>T	NP_001350585.1:p.Gly11Trp
NR_033500.2:n.512G>T