Canonical Allele Identifier: CA012080

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45070
• ClinVar RCV Id: RCV000038211 ; RCV000327700 ; RCV000624994 ; RCV001719750 ; RCV003125860
• dbSNP Id: rs149968852
• ExAC: 12:32949029 A / AG
• gnomAD v2: 12-32949029-A-AG
• gnomAD v3: 12-32796095-A-AG
• gnomAD v4: 12-32796095-A-AG
• MyVariant Identifiers: chr12:g.32949029_32949030insG (hg19) ; chr12:g.32796095_32796096insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796095_32796096insG , CM000674.2:g.32796095_32796096insG	GRCh38
NC_000012.11:g.32949029_32949030insG , CM000674.1:g.32949029_32949030insG	GRCh37
NC_000012.10:g.32840296_32840297insG	NCBI36
NG_009000.1:g.105751_105752insC , LRG_398:g.105751_105752insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+13_860+14insC
ENST00000700557.2:n.449+13_449+14insC
ENST00000700559.2:c.2168-3365_2168-3364insC	ENSP00000515065.2:n.2168-3365_2168-3364insC
ENST00000546498.2:n.1044+13_1044+14insC
ENST00000549461.2:n.849+13_849+14insC
ENST00000700555.1:c.788+13_788+14insC	ENSP00000515062.1:n.788+13_788+14insC
ENST00000700556.1:c.828+13_828+14insC
ENST00000700557.1:c.368+13_368+14insC	ENSP00000515064.1:n.368+13_368+14insC
ENST00000700558.1:n.571+13_571+14insC
ENST00000700559.1:c.1383-3365_1383-3364insC
ENST00000700560.1:n.1572+13_1572+14insC
ENST00000700561.1:n.1711_1712insC
ENST00000070846.11:c.2489+13_2489+14insC	ENSP00000070846.6:n.2489+13_2489+14insC
ENST00000340811.9:c.2357+13_2357+14insC MANE Select	ENSP00000342800.5:n.2357+13_2357+14insC
ENST00000070846.10:c.2489+13_2489+14insC	ENSP00000070846.6:n.2489+13_2489+14insC
ENST00000340811.8:c.2357+13_2357+14insC	ENSP00000342800.4:n.2357+13_2357+14insC
ENST00000613243.1:c.2487+13_2487+14insC	ENSP00000478295.1:n.2487+13_2487+14insC
NM_001005242.2:c.2357+13_2357+14insC	NP_001005242.2:n.2357+13_2357+14insC
NM_004572.3:c.2489+13_2489+14insC , LRG_398t1:c.2489+13_2489+14insC	NP_004563.2:n.2489+13_2489+14insC
NM_001005242.3:c.2357+13_2357+14insC MANE Select	NP_001005242.2:n.2357+13_2357+14insC
NM_004572.4:c.2489+13_2489+14insC	NP_004563.2:n.2489+13_2489+14insC