Canonical Allele Identifier: CA309851909

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs865809238
• gnomAD v4: 19-52190166-G-A
• MyVariant Identifiers: chr19:g.52693419G>A (hg19) ; chr19:g.52190166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190166G>A , CM000681.2:g.52190166G>A	GRCh38
NC_000019.9:g.52693419G>A , CM000681.1:g.52693419G>A	GRCh37
NC_000019.8:g.57385231G>A	NCBI36
NG_047068.1:g.5365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.70G>A	ENSP00000391905.3:p.Asp24Asn
ENST00000703395.1:c.-459-11778G>A	ENSP00000515286.1:n.-459-11778G>A
ENST00000703396.1:n.115G>A
ENST00000703397.1:c.-665G>A	ENSP00000515287.1:n.-665G>A
ENST00000703398.1:c.70G>A	ENSP00000515288.1:p.Asp24Asn
ENST00000703421.1:n.231+1010G>A
ENST00000703422.1:c.70G>A	ENSP00000515292.1:p.Asp24Asn
ENST00000322088.11:c.70G>A MANE Select	ENSP00000324804.6:p.Asp24Asn
ENST00000322088.10:c.70G>A	ENSP00000324804.6:p.Asp24Asn
ENST00000454220.6:c.70G>A	ENSP00000391905.2:p.Asp24Asn
ENST00000468280.5:n.53G>A
ENST00000477989.1:c.70G>A	ENSP00000471298.1:p.Asp24Asn
ENST00000490868.5:c.70G>A	ENSP00000469150.1:p.Asp24Asn
ENST00000628959.1:c.70G>A	ENSP00000485914.1:p.Asp24Asn
NM_014225.5:c.70G>A	NP_055040.2:p.Asp24Asn
NR_033500.1:n.365G>A
NM_014225.6:c.70G>A MANE Select	NP_055040.2:p.Asp24Asn
NR_033500.2:n.115G>A