Canonical Allele Identifier: CA235218742

Gene: PKP2

Linked Data

• dbSNP Id: rs962908685
• gnomAD v3: 12-32796683-G-A
• gnomAD v4: 12-32796683-G-A
• MyVariant Identifiers: chr12:g.32949617G>A (hg19) ; chr12:g.32796683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796683G>A , CM000674.2:g.32796683G>A	GRCh38
NC_000012.11:g.32949617G>A , CM000674.1:g.32949617G>A	GRCh37
NC_000012.10:g.32840884G>A	NCBI36
NG_009000.1:g.105164C>T , LRG_398:g.105164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-385C>T
ENST00000700557.2:n.260-385C>T
ENST00000700559.2:c.2168-3952C>T	ENSP00000515065.2:n.2168-3952C>T
ENST00000546498.2:n.855-385C>T
ENST00000549461.2:n.660-385C>T
ENST00000700555.1:c.599-385C>T	ENSP00000515062.1:n.599-385C>T
ENST00000700556.1:c.639-385C>T
ENST00000700557.1:c.179-385C>T	ENSP00000515064.1:n.179-385C>T
ENST00000700558.1:n.382-385C>T
ENST00000700559.1:c.1383-3952C>T
ENST00000700560.1:n.1383-385C>T
ENST00000700561.1:n.1509-385C>T
ENST00000070846.11:c.2300-385C>T	ENSP00000070846.6:n.2300-385C>T
ENST00000340811.9:c.2168-385C>T MANE Select	ENSP00000342800.5:n.2168-385C>T
ENST00000070846.10:c.2300-385C>T	ENSP00000070846.6:n.2300-385C>T
ENST00000340811.8:c.2168-385C>T	ENSP00000342800.4:n.2168-385C>T
ENST00000613243.1:c.2300-385C>T	ENSP00000478295.1:n.2300-385C>T
NM_001005242.2:c.2168-385C>T	NP_001005242.2:n.2168-385C>T
NM_004572.3:c.2300-385C>T , LRG_398t1:c.2300-385C>T	NP_004563.2:n.2300-385C>T
NM_001005242.3:c.2168-385C>T MANE Select	NP_001005242.2:n.2168-385C>T
NM_004572.4:c.2300-385C>T	NP_004563.2:n.2300-385C>T