Canonical Allele Identifier: CA2026396269

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821436A= , CM000674.2:g.32821436A=	GRCh38
NC_000012.11:g.32974370A= , CM000674.1:g.32974370A=	GRCh37
NC_000012.10:g.32865637A=	NCBI36
NG_009000.1:g.80411T= , LRG_398:g.80411T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.436T=
ENST00000700559.2:c.1933T=	ENSP00000515065.2:p.Leu645=
ENST00000700563.2:c.1933T=	ENSP00000515066.2:p.Leu645=
ENST00000546498.2:n.620T=
ENST00000549461.2:n.472T=
ENST00000700555.1:c.364T=	ENSP00000515062.1:p.Leu122=
ENST00000700556.1:c.404T=
ENST00000700558.1:n.147T=
ENST00000700559.1:c.1148T=
ENST00000700560.1:n.1148T=
ENST00000700561.1:n.1274T=
ENST00000700562.1:n.471T=
ENST00000700563.1:c.1887T=
ENST00000700564.1:n.1937T=
ENST00000070846.11:c.2065T=	ENSP00000070846.6:p.Leu689=
ENST00000340811.9:c.1933T= MANE Select	ENSP00000342800.5:p.Leu645=
ENST00000070846.10:c.2065T=	ENSP00000070846.6:p.Leu689=
ENST00000340811.8:c.1933T=	ENSP00000342800.4:p.Leu645=
ENST00000549461.1:n.379T=
ENST00000552612.5:n.354T=
ENST00000613243.1:c.2065T=	ENSP00000478295.1:p.Leu689=
NM_001005242.2:c.1933T=	NP_001005242.2:p.Leu645=
NM_004572.3:c.2065T= , LRG_398t1:c.2065T=	NP_004563.2:p.Leu689=
NM_001005242.3:c.1933T= MANE Select	NP_001005242.2:p.Leu645=
NM_004572.4:c.2065T=	NP_004563.2:p.Leu689=