Canonical Allele Identifier: CA6508299

Gene: PKP2

Linked Data

• dbSNP Id: rs777041632
• ExAC: 12:33021832 C / CT
• gnomAD v2: 12-33021832-C-CT
• gnomAD v4: 12-32868898-C-CT
• MyVariant Identifiers: chr12:g.33021832_33021833insT (hg19) ; chr12:g.32868898_32868899insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868901dup , CM000674.2:g.32868901dup	GRCh38
NC_000012.11:g.33021835dup , CM000674.1:g.33021835dup	GRCh37
NC_000012.10:g.32913102dup	NCBI36
NG_009000.1:g.32948dup , LRG_398:g.32948dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1170+28dup	ENSP00000515065.2:n.1170+28dup
ENST00000700563.2:c.1170+28dup	ENSP00000515066.2:n.1170+28dup
ENST00000700559.1:c.385+28dup
ENST00000700560.1:n.385+28dup
ENST00000700561.1:n.511+28dup
ENST00000700563.1:c.1124+28dup
ENST00000700564.1:n.1174+28dup
ENST00000700565.1:n.1023+28dup
ENST00000070846.11:c.1170+28dup	ENSP00000070846.6:n.1170+28dup
ENST00000340811.9:c.1170+28dup MANE Select	ENSP00000342800.5:n.1170+28dup
ENST00000070846.10:c.1170+28dup	ENSP00000070846.6:n.1170+28dup
ENST00000340811.8:c.1170+28dup	ENSP00000342800.4:n.1170+28dup
ENST00000613243.1:c.1170+28dup	ENSP00000478295.1:n.1170+28dup
NM_001005242.2:c.1170+28dup	NP_001005242.2:n.1170+28dup
NM_004572.3:c.1170+28dup , LRG_398t1:c.1170+28dup	NP_004563.2:n.1170+28dup
NM_001005242.3:c.1170+28dup MANE Select	NP_001005242.2:n.1170+28dup
NM_004572.4:c.1170+28dup	NP_004563.2:n.1170+28dup