Canonical Allele Identifier: CA407183777

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122335264
• MyVariant Identifiers: chr19:g.52716018G>C (hg19) ; chr19:g.52212765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212765G>C , CM000681.2:g.52212765G>C	GRCh38
NC_000019.9:g.52716018G>C , CM000681.1:g.52716018G>C	GRCh37
NC_000019.8:g.57407830G>C	NCBI36
NG_047068.1:g.27964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.703G>C	ENSP00000391905.3:p.Val235Leu
ENST00000703395.1:c.46G>C	ENSP00000515286.1:p.Val16Leu
ENST00000703396.1:n.527G>C
ENST00000703397.1:c.46G>C	ENSP00000515287.1:p.Val16Leu
ENST00000703398.1:c.625G>C	ENSP00000515288.1:p.Val209Leu
ENST00000703421.1:n.736G>C
ENST00000703422.1:c.559G>C	ENSP00000515292.1:p.Val187Leu
ENST00000703423.1:c.46G>C	ENSP00000515293.1:p.Val16Leu
ENST00000322088.11:c.583G>C MANE Select	ENSP00000324804.6:p.Val195Leu
ENST00000322088.10:c.583G>C	ENSP00000324804.6:p.Val195Leu
ENST00000454220.6:c.703G>C	ENSP00000391905.2:p.Val235Leu
ENST00000462047.1:n.274G>C
ENST00000462990.5:c.46G>C	ENSP00000470504.1:p.Val16Leu
NM_014225.5:c.583G>C	NP_055040.2:p.Val195Leu
NR_033500.1:n.777G>C
NM_001363656.1:c.46G>C	NP_001350585.1:p.Val16Leu
NM_014225.6:c.583G>C MANE Select	NP_055040.2:p.Val195Leu
NM_001363656.2:c.46G>C	NP_001350585.1:p.Val16Leu
NR_033500.2:n.527G>C