Canonical Allele Identifier: CA384357967

Gene: PKP2

Linked Data

• dbSNP Id: rs1378578416
• gnomAD v2: 12-32949227-C-T
• gnomAD v3: 12-32796293-C-T
• gnomAD v4: 12-32796293-C-T
• MyVariant Identifiers: chr12:g.32949227C>T (hg19) ; chr12:g.32796293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796293C>T , CM000674.2:g.32796293C>T	GRCh38
NC_000012.11:g.32949227C>T , CM000674.1:g.32949227C>T	GRCh37
NC_000012.10:g.32840494C>T	NCBI36
NG_009000.1:g.105554G>A , LRG_398:g.105554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.676G>A
ENST00000700557.2:n.265G>A
ENST00000700559.2:c.2168-3562G>A	ENSP00000515065.2:n.2168-3562G>A
ENST00000546498.2:n.860G>A
ENST00000549461.2:n.665G>A
ENST00000700555.1:c.604G>A	ENSP00000515062.1:p.Glu202Lys
ENST00000700556.1:c.644G>A
ENST00000700557.1:c.184G>A	ENSP00000515064.1:p.Glu62Lys
ENST00000700558.1:n.387G>A
ENST00000700559.1:c.1383-3562G>A
ENST00000700560.1:n.1388G>A
ENST00000700561.1:n.1514G>A
ENST00000070846.11:c.2305G>A	ENSP00000070846.6:p.Glu769Lys
ENST00000340811.9:c.2173G>A MANE Select	ENSP00000342800.5:p.Glu725Lys
ENST00000070846.10:c.2305G>A	ENSP00000070846.6:p.Glu769Lys
ENST00000340811.8:c.2173G>A	ENSP00000342800.4:p.Glu725Lys
ENST00000613243.1:c.2305G>A	ENSP00000478295.1:p.Glu769Lys
NM_001005242.2:c.2173G>A	NP_001005242.2:p.Glu725Lys
NM_004572.3:c.2305G>A , LRG_398t1:c.2305G>A	NP_004563.2:p.Glu769Lys
NM_001005242.3:c.2173G>A MANE Select	NP_001005242.2:p.Glu725Lys
NM_004572.4:c.2305G>A	NP_004563.2:p.Glu769Lys