Canonical Allele Identifier: CA479173507

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796267-G-T
• MyVariant Identifiers: chr12:g.32949201G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796267G>T , CM000674.2:g.32796267G>T	GRCh38
NC_000012.11:g.32949201G>T , CM000674.1:g.32949201G>T	GRCh37
NC_000012.10:g.32840468G>T	NCBI36
NG_009000.1:g.105580C>A , LRG_398:g.105580C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.702C>A
ENST00000700557.2:n.291C>A
ENST00000700559.2:c.2168-3536C>A	ENSP00000515065.2:n.2168-3536C>A
ENST00000546498.2:n.886C>A
ENST00000549461.2:n.691C>A
ENST00000700555.1:c.630C>A	ENSP00000515062.1:p.Ile210=
ENST00000700556.1:c.670C>A
ENST00000700557.1:c.210C>A	ENSP00000515064.1:p.Ile70=
ENST00000700558.1:n.413C>A
ENST00000700559.1:c.1383-3536C>A
ENST00000700560.1:n.1414C>A
ENST00000700561.1:n.1540C>A
ENST00000070846.11:c.2331C>A	ENSP00000070846.6:p.Ile777=
ENST00000340811.9:c.2199C>A MANE Select	ENSP00000342800.5:p.Ile733=
ENST00000070846.10:c.2331C>A	ENSP00000070846.6:p.Ile777=
ENST00000340811.8:c.2199C>A	ENSP00000342800.4:p.Ile733=
ENST00000613243.1:c.2331C>A	ENSP00000478295.1:p.Ile777=
NM_001005242.2:c.2199C>A	NP_001005242.2:p.Ile733=
NM_004572.3:c.2331C>A , LRG_398t1:c.2331C>A	NP_004563.2:p.Ile777=
NM_001005242.3:c.2199C>A MANE Select	NP_001005242.2:p.Ile733=
NM_004572.4:c.2331C>A	NP_004563.2:p.Ile777=