Canonical Allele Identifier: CA384357535

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796125-T-C
• MyVariant Identifiers: chr12:g.32949059T>C (hg19) ; chr12:g.32796125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796125T>C , CM000674.2:g.32796125T>C	GRCh38
NC_000012.11:g.32949059T>C , CM000674.1:g.32949059T>C	GRCh37
NC_000012.10:g.32840326T>C	NCBI36
NG_009000.1:g.105722A>G , LRG_398:g.105722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.844A>G
ENST00000700557.2:n.433A>G
ENST00000700559.2:c.2168-3394A>G	ENSP00000515065.2:n.2168-3394A>G
ENST00000546498.2:n.1028A>G
ENST00000549461.2:n.833A>G
ENST00000700555.1:c.772A>G	ENSP00000515062.1:p.Ile258Val
ENST00000700556.1:c.812A>G
ENST00000700557.1:c.352A>G	ENSP00000515064.1:p.Ile118Val
ENST00000700558.1:n.555A>G
ENST00000700559.1:c.1383-3394A>G
ENST00000700560.1:n.1556A>G
ENST00000700561.1:n.1682A>G
ENST00000070846.11:c.2473A>G	ENSP00000070846.6:p.Ile825Val
ENST00000340811.9:c.2341A>G MANE Select	ENSP00000342800.5:p.Ile781Val
ENST00000070846.10:c.2473A>G	ENSP00000070846.6:p.Ile825Val
ENST00000340811.8:c.2341A>G	ENSP00000342800.4:p.Ile781Val
ENST00000613243.1:c.2471A>G	ENSP00000478295.1:p.His824Arg
NM_001005242.2:c.2341A>G	NP_001005242.2:p.Ile781Val
NM_004572.3:c.2473A>G , LRG_398t1:c.2473A>G	NP_004563.2:p.Ile825Val
NM_001005242.3:c.2341A>G MANE Select	NP_001005242.2:p.Ile781Val
NM_004572.4:c.2473A>G	NP_004563.2:p.Ile825Val