Canonical Allele Identifier: CA407183751

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122335222
• MyVariant Identifiers: chr19:g.52716015A>T (hg19) ; chr19:g.52212762A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212762A>T , CM000681.2:g.52212762A>T	GRCh38
NC_000019.9:g.52716015A>T , CM000681.1:g.52716015A>T	GRCh37
NC_000019.8:g.57407827A>T	NCBI36
NG_047068.1:g.27961A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.700A>T	ENSP00000391905.3:p.Lys234Ter
ENST00000703395.1:c.43A>T	ENSP00000515286.1:p.Lys15Ter
ENST00000703396.1:n.524A>T
ENST00000703397.1:c.43A>T	ENSP00000515287.1:p.Lys15Ter
ENST00000703398.1:c.622A>T	ENSP00000515288.1:p.Lys208Ter
ENST00000703421.1:n.733A>T
ENST00000703422.1:c.556A>T	ENSP00000515292.1:p.Lys186Ter
ENST00000703423.1:c.43A>T	ENSP00000515293.1:p.Lys15Ter
ENST00000322088.11:c.580A>T MANE Select	ENSP00000324804.6:p.Lys194Ter
ENST00000322088.10:c.580A>T	ENSP00000324804.6:p.Lys194Ter
ENST00000454220.6:c.700A>T	ENSP00000391905.2:p.Lys234Ter
ENST00000462047.1:n.271A>T
ENST00000462990.5:c.43A>T	ENSP00000470504.1:p.Lys15Ter
NM_014225.5:c.580A>T	NP_055040.2:p.Lys194Ter
NR_033500.1:n.774A>T
NM_001363656.1:c.43A>T	NP_001350585.1:p.Lys15Ter
NM_014225.6:c.580A>T MANE Select	NP_055040.2:p.Lys194Ter
NM_001363656.2:c.43A>T	NP_001350585.1:p.Lys15Ter
NR_033500.2:n.524A>T