Canonical Allele Identifier: CA384357928

Gene: PKP2

Linked Data

• COSMIC: COSM2206064
• MyVariant Identifiers: chr12:g.32949209C>T (hg19) ; chr12:g.32796275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796275C>T , CM000674.2:g.32796275C>T	GRCh38
NC_000012.11:g.32949209C>T , CM000674.1:g.32949209C>T	GRCh37
NC_000012.10:g.32840476C>T	NCBI36
NG_009000.1:g.105572G>A , LRG_398:g.105572G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.694G>A
ENST00000700557.2:n.283G>A
ENST00000700559.2:c.2168-3544G>A	ENSP00000515065.2:n.2168-3544G>A
ENST00000546498.2:n.878G>A
ENST00000549461.2:n.683G>A
ENST00000700555.1:c.622G>A	ENSP00000515062.1:p.Val208Ile
ENST00000700556.1:c.662G>A
ENST00000700557.1:c.202G>A	ENSP00000515064.1:p.Val68Ile
ENST00000700558.1:n.405G>A
ENST00000700559.1:c.1383-3544G>A
ENST00000700560.1:n.1406G>A
ENST00000700561.1:n.1532G>A
ENST00000070846.11:c.2323G>A	ENSP00000070846.6:p.Val775Ile
ENST00000340811.9:c.2191G>A MANE Select	ENSP00000342800.5:p.Val731Ile
ENST00000070846.10:c.2323G>A	ENSP00000070846.6:p.Val775Ile
ENST00000340811.8:c.2191G>A	ENSP00000342800.4:p.Val731Ile
ENST00000613243.1:c.2323G>A	ENSP00000478295.1:p.Val775Ile
NM_001005242.2:c.2191G>A	NP_001005242.2:p.Val731Ile
NM_004572.3:c.2323G>A , LRG_398t1:c.2323G>A	NP_004563.2:p.Val775Ile
NM_001005242.3:c.2191G>A MANE Select	NP_001005242.2:p.Val731Ile
NM_004572.4:c.2323G>A	NP_004563.2:p.Val775Ile