Canonical Allele Identifier: CA384363444

Gene: PKP2

Linked Data

• dbSNP Id: rs1956392355
• MyVariant Identifiers: chr12:g.32975532G>A (hg19) ; chr12:g.32822598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822598G>A , CM000674.2:g.32822598G>A	GRCh38
NC_000012.11:g.32975532G>A , CM000674.1:g.32975532G>A	GRCh37
NC_000012.10:g.32866799G>A	NCBI36
NG_009000.1:g.79249C>T , LRG_398:g.79249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.220C>T
ENST00000700559.2:c.1708C>T	ENSP00000515065.2:p.Leu570Phe
ENST00000700563.2:c.1708C>T	ENSP00000515066.2:p.Leu570Phe
ENST00000546498.2:n.395C>T
ENST00000700555.1:c.148C>T	ENSP00000515062.1:p.Leu50Phe
ENST00000700556.1:c.179C>T
ENST00000700559.1:c.923C>T
ENST00000700560.1:n.923C>T
ENST00000700561.1:n.1049C>T
ENST00000700563.1:c.1662C>T
ENST00000700564.1:n.1712C>T
ENST00000070846.11:c.1840C>T	ENSP00000070846.6:p.Leu614Phe
ENST00000340811.9:c.1708C>T MANE Select	ENSP00000342800.5:p.Leu570Phe
ENST00000070846.10:c.1840C>T	ENSP00000070846.6:p.Leu614Phe
ENST00000340811.8:c.1708C>T	ENSP00000342800.4:p.Leu570Phe
ENST00000546498.1:n.395C>T
ENST00000552612.5:n.129C>T
ENST00000613243.1:c.1840C>T	ENSP00000478295.1:p.Leu614Phe
NM_001005242.2:c.1708C>T	NP_001005242.2:p.Leu570Phe
NM_004572.3:c.1840C>T , LRG_398t1:c.1840C>T	NP_004563.2:p.Leu614Phe
NM_001005242.3:c.1708C>T MANE Select	NP_001005242.2:p.Leu570Phe
NM_004572.4:c.1840C>T	NP_004563.2:p.Leu614Phe