Canonical Allele Identifier: CA6508289

Gene: PKP2

Linked Data

• ClinVar Variation Id: 689321
• ClinVar RCV Id: RCV000850014 ; RCV001559727 ; RCV004017755
• dbSNP Id: rs397517021
• ExAC: 12:32955433 GGGTGT / G
• gnomAD v2: 12-32955433-GGGTGT-G
• gnomAD v3: 12-32802499-GGGTGT-G
• gnomAD v4: 12-32802499-GGGTGT-G
• MyVariant Identifiers: chr12:g.32955434_32955438del (hg19) ; chr12:g.32802500_32802504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802501_32802505del , CM000674.2:g.32802501_32802505del	GRCh38
NC_000012.11:g.32955435_32955439del , CM000674.1:g.32955435_32955439del	GRCh37
NC_000012.10:g.32846702_32846706del	NCBI36
NG_009000.1:g.99343_99347del , LRG_398:g.99343_99347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.569_573del
ENST00000700557.2:n.158_162del
ENST00000700559.2:c.2066_2070del	ENSP00000515065.2:p.His689ProfsTer8
ENST00000546498.2:n.753_757del
ENST00000549461.2:n.605_609del
ENST00000700555.1:c.497_501del	ENSP00000515062.1:p.His166ProfsTer8
ENST00000700556.1:c.537_541del
ENST00000700557.1:c.77_81del	ENSP00000515064.1:p.His26ProfsTer8
ENST00000700558.1:n.280_284del
ENST00000700559.1:c.1281_1285del
ENST00000700560.1:n.1281_1285del
ENST00000700561.1:n.1407_1411del
ENST00000070846.11:c.2198_2202del	ENSP00000070846.6:p.His733ProfsTer8
ENST00000340811.9:c.2066_2070del MANE Select	ENSP00000342800.5:p.His689ProfsTer8
ENST00000070846.10:c.2198_2202del	ENSP00000070846.6:p.His733ProfsTer8
ENST00000340811.8:c.2066_2070del	ENSP00000342800.4:p.His689ProfsTer8
ENST00000549461.1:n.512_516del
ENST00000613243.1:c.2198_2202del	ENSP00000478295.1:p.His733ProfsTer8
NM_001005242.2:c.2066_2070del	NP_001005242.2:p.His689ProfsTer8
NM_004572.3:c.2198_2202del , LRG_398t1:c.2198_2202del	NP_004563.2:p.His733ProfsTer8
NM_001005242.3:c.2066_2070del MANE Select	NP_001005242.2:p.His689ProfsTer8
NM_004572.4:c.2198_2202del	NP_004563.2:p.His733ProfsTer8