Canonical Allele Identifier: CA479174799

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802467-C-T
• COSMIC: COSM5375046
• MyVariant Identifiers: chr12:g.32955401C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802467C>T , CM000674.2:g.32802467C>T	GRCh38
NC_000012.11:g.32955401C>T , CM000674.1:g.32955401C>T	GRCh37
NC_000012.10:g.32846668C>T	NCBI36
NG_009000.1:g.99380G>A , LRG_398:g.99380G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.606G>A
ENST00000700557.2:n.195G>A
ENST00000700559.2:c.2103G>A	ENSP00000515065.2:p.Val701=
ENST00000546498.2:n.790G>A
ENST00000549461.2:n.642G>A
ENST00000700555.1:c.534G>A	ENSP00000515062.1:p.Val178=
ENST00000700556.1:c.574G>A
ENST00000700557.1:c.114G>A	ENSP00000515064.1:p.Val38=
ENST00000700558.1:n.317G>A
ENST00000700559.1:c.1318G>A
ENST00000700560.1:n.1318G>A
ENST00000700561.1:n.1444G>A
ENST00000070846.11:c.2235G>A	ENSP00000070846.6:p.Val745=
ENST00000340811.9:c.2103G>A MANE Select	ENSP00000342800.5:p.Val701=
ENST00000070846.10:c.2235G>A	ENSP00000070846.6:p.Val745=
ENST00000340811.8:c.2103G>A	ENSP00000342800.4:p.Val701=
ENST00000549461.1:n.549G>A
ENST00000613243.1:c.2235G>A	ENSP00000478295.1:p.Val745=
NM_001005242.2:c.2103G>A	NP_001005242.2:p.Val701=
NM_004572.3:c.2235G>A , LRG_398t1:c.2235G>A	NP_004563.2:p.Val745=
NM_001005242.3:c.2103G>A MANE Select	NP_001005242.2:p.Val701=
NM_004572.4:c.2235G>A	NP_004563.2:p.Val745=