Canonical Allele Identifier: CA2026373732

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841164G= , CM000674.2:g.32841164G=	GRCh38
NC_000012.11:g.32994098G= , CM000674.1:g.32994098G=	GRCh37
NC_000012.10:g.32885365G=	NCBI36
NG_009000.1:g.60683C= , LRG_398:g.60683C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1420C=	ENSP00000515065.2:p.Leu474=
ENST00000700563.2:c.1420C=	ENSP00000515066.2:p.Leu474=
ENST00000700559.1:c.635C=
ENST00000700560.1:n.635C=
ENST00000700561.1:n.761C=
ENST00000700563.1:c.1374C=
ENST00000700564.1:n.1424C=
ENST00000700565.1:n.1273C=
ENST00000070846.11:c.1552C=	ENSP00000070846.6:p.Leu518=
ENST00000340811.9:c.1420C= MANE Select	ENSP00000342800.5:p.Leu474=
ENST00000070846.10:c.1552C=	ENSP00000070846.6:p.Leu518=
ENST00000340811.8:c.1420C=	ENSP00000342800.4:p.Leu474=
ENST00000613243.1:c.1552C=	ENSP00000478295.1:p.Leu518=
NM_001005242.2:c.1420C=	NP_001005242.2:p.Leu474=
NM_004572.3:c.1552C= , LRG_398t1:c.1552C=	NP_004563.2:p.Leu518=
NM_001005242.3:c.1420C= MANE Select	NP_001005242.2:p.Leu474=
NM_004572.4:c.1552C=	NP_004563.2:p.Leu518=