Canonical Allele Identifier: CA407183518

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122334663
• MyVariant Identifiers: chr19:g.52715973A>C (hg19) ; chr19:g.52212720A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212720A>C , CM000681.2:g.52212720A>C	GRCh38
NC_000019.9:g.52715973A>C , CM000681.1:g.52715973A>C	GRCh37
NC_000019.8:g.57407785A>C	NCBI36
NG_047068.1:g.27919A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.658A>C	ENSP00000391905.3:p.Met220Leu
ENST00000703395.1:c.1A>C	ENSP00000515286.1:p.Met1Leu
ENST00000703396.1:n.482A>C
ENST00000703397.1:c.1A>C	ENSP00000515287.1:p.Met1Leu
ENST00000703398.1:c.580A>C	ENSP00000515288.1:p.Met194Leu
ENST00000703421.1:n.691A>C
ENST00000703422.1:c.514A>C	ENSP00000515292.1:p.Met172Leu
ENST00000703423.1:c.1A>C	ENSP00000515293.1:p.Met1Leu
ENST00000322088.11:c.538A>C MANE Select	ENSP00000324804.6:p.Met180Leu
ENST00000322088.10:c.538A>C	ENSP00000324804.6:p.Met180Leu
ENST00000454220.6:c.658A>C	ENSP00000391905.2:p.Met220Leu
ENST00000462047.1:n.229A>C
ENST00000462990.5:c.1A>C	ENSP00000470504.1:p.Met1Leu
NM_014225.5:c.538A>C	NP_055040.2:p.Met180Leu
NR_033500.1:n.732A>C
NM_001363656.1:c.1A>C	NP_001350585.1:p.Met1Leu
NM_014225.6:c.538A>C MANE Select	NP_055040.2:p.Met180Leu
NM_001363656.2:c.1A>C	NP_001350585.1:p.Met1Leu
NR_033500.2:n.482A>C