Canonical Allele Identifier: CA011777

Gene: PKP2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802500_32802505delinsC , CM000674.2:g.32802500_32802505delinsC	GRCh38
NC_000012.11:g.32955434_32955439delinsC , CM000674.1:g.32955434_32955439delinsC	GRCh37
NC_000012.10:g.32846701_32846706delinsC	NCBI36
NG_009000.1:g.99342_99347delinsG , LRG_398:g.99342_99347delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.568_573delinsG
ENST00000700557.2:n.157_162delinsG
ENST00000700559.2:c.2065_2070delinsG	ENSP00000515065.2:p.His689AlafsTer8
ENST00000546498.2:n.752_757delinsG
ENST00000549461.2:n.604_609delinsG
ENST00000700555.1:c.496_501delinsG	ENSP00000515062.1:p.His166AlafsTer8
ENST00000700556.1:c.536_541delinsG
ENST00000700557.1:c.76_81delinsG	ENSP00000515064.1:p.His26AlafsTer8
ENST00000700558.1:n.279_284delinsG
ENST00000700559.1:c.1280_1285delinsG
ENST00000700560.1:n.1280_1285delinsG
ENST00000700561.1:n.1406_1411delinsG
ENST00000070846.11:c.2197_2202delinsG	ENSP00000070846.6:p.His733AlafsTer8
ENST00000340811.9:c.2065_2070delinsG MANE Select	ENSP00000342800.5:p.His689AlafsTer8
ENST00000070846.10:c.2197_2202delinsG	ENSP00000070846.6:p.His733AlafsTer8
ENST00000340811.8:c.2065_2070delinsG	ENSP00000342800.4:p.His689AlafsTer8
ENST00000549461.1:n.511_516delinsG
ENST00000613243.1:c.2197_2202delinsG	ENSP00000478295.1:p.His733AlafsTer8
NM_001005242.2:c.2065_2070delinsG	NP_001005242.2:p.His689AlafsTer8
NM_004572.3:c.2197_2202delinsG , LRG_398t1:c.2197_2202delinsG	NP_004563.2:p.His733AlafsTer8
NM_001005242.3:c.2065_2070delinsG MANE Select	NP_001005242.2:p.His689AlafsTer8
NM_004572.4:c.2197_2202delinsG	NP_004563.2:p.His733AlafsTer8