Canonical Allele Identifier: CA3191757890

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824091A= , CM000674.2:g.32824091A=	GRCh38
NC_000012.11:g.32977025A= , CM000674.1:g.32977025A=	GRCh37
NC_000012.10:g.32868292A=	NCBI36
NG_009000.1:g.77756T= , LRG_398:g.77756T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1628T= MANE Select	NP_001005242.2:p.Val543=
ENST00000340811.9:c.1628T= MANE Select	ENSP00000342800.5:p.Val543=
NM_001005242.2:c.1628T=	NP_001005242.2:p.Val543=
NM_004572.3:c.1760T= , LRG_398t1:c.1760T=	NP_004563.2:p.Val587=
NM_004572.4:c.1760T=	NP_004563.2:p.Val587=
ENST00000070846.10:c.1760T=	ENSP00000070846.6:p.Val587=
ENST00000070846.11:c.1760T=	ENSP00000070846.6:p.Val587=
ENST00000340811.8:c.1628T=	ENSP00000342800.4:p.Val543=
ENST00000546498.1:n.315T=
ENST00000546498.2:n.315T=
ENST00000552612.5:n.49T=
ENST00000613243.1:c.1760T=	ENSP00000478295.1:p.Val587=
ENST00000700555.1:c.68T=	ENSP00000515062.1:p.Val23=
ENST00000700555.2:n.140T=
ENST00000700556.1:c.99T=
ENST00000700559.1:c.843T=
ENST00000700559.2:c.1628T=	ENSP00000515065.2:p.Val543=
ENST00000700560.1:n.843T=
ENST00000700561.1:n.969T=
ENST00000700563.1:c.1582T=
ENST00000700563.2:c.1628T=	ENSP00000515066.2:p.Val543=
ENST00000700564.1:n.1632T=