Canonical Allele Identifier: CA012208

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202025
• ClinVar RCV Id: RCV000559488 ; RCV001179785 ; RCV003996845
• dbSNP Id: rs372263407
• ExAC: 12:32945392 C / T
• gnomAD v2: 12-32945392-C-T
• gnomAD v3: 12-32792458-C-T
• gnomAD v4: 12-32792458-C-T
• COSMIC: COSM1220831
• MyVariant Identifiers: chr12:g.32945392C>T (hg19) ; chr12:g.32792458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792458C>T , CM000674.2:g.32792458C>T	GRCh38
NC_000012.11:g.32945392C>T , CM000674.1:g.32945392C>T	GRCh37
NC_000012.10:g.32836659C>T	NCBI36
NG_009000.1:g.109389G>A , LRG_398:g.109389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.983G>A
ENST00000700557.2:n.572G>A
ENST00000700559.2:c.2290G>A	ENSP00000515065.2:p.Gly764Arg
ENST00000546498.2:n.1167G>A
ENST00000549461.2:n.972G>A
ENST00000700555.1:c.911G>A	ENSP00000515062.1:p.Arg304Gln
ENST00000700556.1:c.951G>A
ENST00000700557.1:c.491G>A	ENSP00000515064.1:p.Arg164Gln
ENST00000700558.1:n.694G>A
ENST00000700559.1:c.1505G>A
ENST00000700560.1:n.1846G>A
ENST00000070846.11:c.2612G>A	ENSP00000070846.6:p.Arg871Gln
ENST00000340811.9:c.2480G>A MANE Select	ENSP00000342800.5:p.Arg827Gln
ENST00000070846.10:c.2612G>A	ENSP00000070846.6:p.Arg871Gln
ENST00000340811.8:c.2480G>A	ENSP00000342800.4:p.Arg827Gln
ENST00000546769.1:n.267G>A
ENST00000613243.1:c.2610G>A	ENSP00000478295.1:n.2610G>A
NM_001005242.2:c.2480G>A	NP_001005242.2:p.Arg827Gln
NM_004572.3:c.2612G>A , LRG_398t1:c.2612G>A	NP_004563.2:p.Arg871Gln
NM_001005242.3:c.2480G>A MANE Select	NP_001005242.2:p.Arg827Gln
NM_004572.4:c.2612G>A	NP_004563.2:p.Arg871Gln