Canonical Allele Identifier: CA10632622

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308470
• ClinVar RCV Id: RCV000386235
• dbSNP Id: rs3833501
• gnomAD v2: 12-32944046-TA-T
• gnomAD v3: 12-32791112-TA-T
• gnomAD v4: 12-32791112-TA-T
• COSMIC: COSN20109448
• MyVariant Identifiers: chr12:g.32944048del (hg19) ; chr12:g.32944047del (hg19) ; chr12:g.32791114del (hg38) ; chr12:g.32791113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32791123del , CM000674.2:g.32791123del	GRCh38
NC_000012.11:g.32944057del , CM000674.1:g.32944057del	GRCh37
NC_000012.10:g.32835324del	NCBI36
NG_009000.1:g.110734del , LRG_398:g.110734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.2328del
ENST00000700557.2:n.1917del
ENST00000700559.2:c.*1166del	ENSP00000515065.2:n.*1166del
ENST00000549461.2:n.2317del
ENST00000700555.1:c.*1311del	ENSP00000515062.1:n.*1311del
ENST00000700556.1:c.2296del
ENST00000700557.1:c.*1311del	ENSP00000515064.1:n.*1311del
ENST00000070846.11:c.*1311del	ENSP00000070846.6:n.*1311del
ENST00000340811.9:c.*1311del MANE Select	ENSP00000342800.5:n.*1311del
ENST00000070846.10:c.*1311del	ENSP00000070846.6:n.*1311del
ENST00000340811.8:c.*1311del	ENSP00000342800.4:n.*1311del
NM_001005242.2:c.*1311del	NP_001005242.2:n.*1311del
NM_004572.3:c.*1311del , LRG_398t1:c.*1311del	NP_004563.2:n.*1311del
NM_001005242.3:c.*1311del MANE Select	NP_001005242.2:n.*1311del
NM_004572.4:c.*1311del	NP_004563.2:n.*1311del