Canonical Allele Identifier: CA384361744

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32974355C>A (hg19) ; chr12:g.32821421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821421C>A , CM000674.2:g.32821421C>A	GRCh38
NC_000012.11:g.32974355C>A , CM000674.1:g.32974355C>A	GRCh37
NC_000012.10:g.32865622C>A	NCBI36
NG_009000.1:g.80426G>T , LRG_398:g.80426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.451G>T
ENST00000700559.2:c.1948G>T	ENSP00000515065.2:p.Val650Phe
ENST00000700563.2:c.1948G>T	ENSP00000515066.2:p.Val650Phe
ENST00000546498.2:n.635G>T
ENST00000549461.2:n.487G>T
ENST00000700555.1:c.379G>T	ENSP00000515062.1:p.Val127Phe
ENST00000700556.1:c.419G>T
ENST00000700558.1:n.162G>T
ENST00000700559.1:c.1163G>T
ENST00000700560.1:n.1163G>T
ENST00000700561.1:n.1289G>T
ENST00000700562.1:n.486G>T
ENST00000700563.1:c.1902G>T
ENST00000700564.1:n.1952G>T
ENST00000070846.11:c.2080G>T	ENSP00000070846.6:p.Val694Phe
ENST00000340811.9:c.1948G>T MANE Select	ENSP00000342800.5:p.Val650Phe
ENST00000070846.10:c.2080G>T	ENSP00000070846.6:p.Val694Phe
ENST00000340811.8:c.1948G>T	ENSP00000342800.4:p.Val650Phe
ENST00000549461.1:n.394G>T
ENST00000552612.5:n.369G>T
ENST00000613243.1:c.2080G>T	ENSP00000478295.1:p.Val694Phe
NM_001005242.2:c.1948G>T	NP_001005242.2:p.Val650Phe
NM_004572.3:c.2080G>T , LRG_398t1:c.2080G>T	NP_004563.2:p.Val694Phe
NM_001005242.3:c.1948G>T MANE Select	NP_001005242.2:p.Val650Phe
NM_004572.4:c.2080G>T	NP_004563.2:p.Val694Phe