Canonical Allele Identifier: CA3192155724

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824094A= , CM000674.2:g.32824094A=	GRCh38
NC_000012.11:g.32977028A= , CM000674.1:g.32977028A=	GRCh37
NC_000012.10:g.32868295A=	NCBI36
NG_009000.1:g.77753T= , LRG_398:g.77753T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1625T= MANE Select	NP_001005242.2:p.Leu542=
ENST00000340811.9:c.1625T= MANE Select	ENSP00000342800.5:p.Leu542=
NM_001005242.2:c.1625T=	NP_001005242.2:p.Leu542=
NM_004572.3:c.1757T= , LRG_398t1:c.1757T=	NP_004563.2:p.Leu586=
NM_004572.4:c.1757T=	NP_004563.2:p.Leu586=
ENST00000070846.10:c.1757T=	ENSP00000070846.6:p.Leu586=
ENST00000070846.11:c.1757T=	ENSP00000070846.6:p.Leu586=
ENST00000340811.8:c.1625T=	ENSP00000342800.4:p.Leu542=
ENST00000546498.1:n.312T=
ENST00000546498.2:n.312T=
ENST00000552612.5:n.46T=
ENST00000613243.1:c.1757T=	ENSP00000478295.1:p.Leu586=
ENST00000700555.1:c.65T=	ENSP00000515062.1:p.Leu22=
ENST00000700555.2:n.137T=
ENST00000700556.1:c.96T=
ENST00000700559.1:c.840T=
ENST00000700559.2:c.1625T=	ENSP00000515065.2:p.Leu542=
ENST00000700560.1:n.840T=
ENST00000700561.1:n.966T=
ENST00000700563.1:c.1579T=
ENST00000700563.2:c.1625T=	ENSP00000515066.2:p.Leu542=
ENST00000700564.1:n.1629T=