Canonical Allele Identifier: CA384357589

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796141-G-T
• MyVariant Identifiers: chr12:g.32949075G>T (hg19) ; chr12:g.32796141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796141G>T , CM000674.2:g.32796141G>T	GRCh38
NC_000012.11:g.32949075G>T , CM000674.1:g.32949075G>T	GRCh37
NC_000012.10:g.32840342G>T	NCBI36
NG_009000.1:g.105706C>A , LRG_398:g.105706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.828C>A
ENST00000700557.2:n.417C>A
ENST00000700559.2:c.2168-3410C>A	ENSP00000515065.2:n.2168-3410C>A
ENST00000546498.2:n.1012C>A
ENST00000549461.2:n.817C>A
ENST00000700555.1:c.756C>A	ENSP00000515062.1:p.Ile252=
ENST00000700556.1:c.796C>A
ENST00000700557.1:c.336C>A	ENSP00000515064.1:p.Ile112=
ENST00000700558.1:n.539C>A
ENST00000700559.1:c.1383-3410C>A
ENST00000700560.1:n.1540C>A
ENST00000700561.1:n.1666C>A
ENST00000070846.11:c.2457C>A	ENSP00000070846.6:p.Ile819=
ENST00000340811.9:c.2325C>A MANE Select	ENSP00000342800.5:p.Ile775=
ENST00000070846.10:c.2457C>A	ENSP00000070846.6:p.Ile819=
ENST00000340811.8:c.2325C>A	ENSP00000342800.4:p.Ile775=
ENST00000613243.1:c.2455C>A	ENSP00000478295.1:p.Pro819Thr
NM_001005242.2:c.2325C>A	NP_001005242.2:p.Ile775=
NM_004572.3:c.2457C>A , LRG_398t1:c.2457C>A	NP_004563.2:p.Ile819=
NM_001005242.3:c.2325C>A MANE Select	NP_001005242.2:p.Ile775=
NM_004572.4:c.2457C>A	NP_004563.2:p.Ile819=