Allele Registry

Canonical Allele Identifier: CA011724

Gene: PKP2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.32821382G>A

GRCh37 chr12:g.32974316G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000038199

RCV002225275

ClinVar Variation:

45059

dbSNP:

397517017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821382G>A , CM000674.2:g.32821382G>A	GRCh38
NC_000012.11:g.32974316G>A , CM000674.1:g.32974316G>A	GRCh37
NC_000012.10:g.32865583G>A	NCBI36
NG_009000.1:g.80465C>T , LRG_398:g.80465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.490C>T
ENST00000700559.2:c.1987C>T	ENSP00000515065.2:p.Gln663Ter
ENST00000700563.2:c.1987C>T	ENSP00000515066.2:p.Gln663Ter
ENST00000546498.2:n.674C>T
ENST00000549461.2:n.526C>T
ENST00000700555.1:c.418C>T	ENSP00000515062.1:p.Gln140Ter
ENST00000700556.1:c.458C>T
ENST00000700558.1:n.201C>T
ENST00000700559.1:c.1202C>T
ENST00000700560.1:n.1202C>T
ENST00000700561.1:n.1328C>T
ENST00000700562.1:n.525C>T
ENST00000700563.1:c.1941C>T
ENST00000700564.1:n.1991C>T
ENST00000070846.11:c.2119C>T	ENSP00000070846.6:p.Gln707Ter
ENST00000340811.9:c.1987C>T MANE Select	ENSP00000342800.5:p.Gln663Ter
ENST00000070846.10:c.2119C>T	ENSP00000070846.6:p.Gln707Ter
ENST00000340811.8:c.1987C>T	ENSP00000342800.4:p.Gln663Ter
ENST00000549461.1:n.433C>T
ENST00000552612.5:n.408C>T
ENST00000613243.1:c.2119C>T	ENSP00000478295.1:p.Gln707Ter
NM_001005242.2:c.1987C>T	NP_001005242.2:p.Gln663Ter
NM_004572.3:c.2119C>T , LRG_398t1:c.2119C>T	NP_004563.2:p.Gln707Ter
NM_001005242.3:c.1987C>T MANE Select	NP_001005242.2:p.Gln663Ter
NM_004572.4:c.2119C>T	NP_004563.2:p.Gln707Ter

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