Canonical Allele Identifier: CA384357926

Gene: PKP2

Linked Data

• gnomAD v3: 12-32796275-C-A
• gnomAD v4: 12-32796275-C-A
• MyVariant Identifiers: chr12:g.32949209C>A (hg19) ; chr12:g.32796275C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.694G>T
ENST00000700557.2:n.283G>T
ENST00000700559.2:c.2168-3544G>T	ENSP00000515065.2:n.2168-3544G>T
ENST00000546498.2:n.878G>T
ENST00000549461.2:n.683G>T
ENST00000700555.1:c.622G>T	ENSP00000515062.1:p.Val208Phe
ENST00000700556.1:c.662G>T
ENST00000700557.1:c.202G>T	ENSP00000515064.1:p.Val68Phe
ENST00000700558.1:n.405G>T
ENST00000700559.1:c.1383-3544G>T
ENST00000700560.1:n.1406G>T
ENST00000700561.1:n.1532G>T
ENST00000070846.11:c.2323G>T	ENSP00000070846.6:p.Val775Phe
ENST00000340811.9:c.2191G>T MANE Select	ENSP00000342800.5:p.Val731Phe
ENST00000070846.10:c.2323G>T	ENSP00000070846.6:p.Val775Phe
ENST00000340811.8:c.2191G>T	ENSP00000342800.4:p.Val731Phe
ENST00000613243.1:c.2323G>T	ENSP00000478295.1:p.Val775Phe
NM_001005242.2:c.2191G>T	NP_001005242.2:p.Val731Phe
NM_004572.3:c.2323G>T , LRG_398t1:c.2323G>T	NP_004563.2:p.Val775Phe
NM_001005242.3:c.2191G>T MANE Select	NP_001005242.2:p.Val731Phe
NM_004572.4:c.2323G>T	NP_004563.2:p.Val775Phe