Canonical Allele Identifier: CA604225999

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1331782
• ClinVar RCV Id: RCV001804298 ; RCV002077246
• dbSNP Id: rs1220372775
• gnomAD v2: 12-32977103-GAAAAAAC-G
• gnomAD v3: 12-32824169-GAAAAAAC-G
• gnomAD v4: 12-32824169-GAAAAAAC-G
• MyVariant Identifiers: chr12:g.32977104_32977110del (hg19) ; chr12:g.32824170_32824176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824183_32824189del , CM000674.2:g.32824183_32824189del	GRCh38
NC_000012.11:g.32977117_32977123del , CM000674.1:g.32977117_32977123del	GRCh37
NC_000012.10:g.32868384_32868390del	NCBI36
NG_009000.1:g.77671_77677del , LRG_398:g.77671_77677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.69-14_69-8del
ENST00000700559.2:c.1557-14_1557-8del	ENSP00000515065.2:n.1557-14_1557-8del
ENST00000700563.2:c.1557-14_1557-8del	ENSP00000515066.2:n.1557-14_1557-8del
ENST00000546498.2:n.230_236del
ENST00000700555.1:c.-4-14_-4-8del	ENSP00000515062.1:n.-4-14_-4-8del
ENST00000700556.1:c.28-14_28-8del
ENST00000700559.1:c.772-14_772-8del
ENST00000700560.1:n.772-14_772-8del
ENST00000700561.1:n.898-14_898-8del
ENST00000700563.1:c.1511-14_1511-8del
ENST00000700564.1:n.1561-14_1561-8del
ENST00000070846.11:c.1689-14_1689-8del	ENSP00000070846.6:n.1689-14_1689-8del
ENST00000340811.9:c.1557-14_1557-8del MANE Select	ENSP00000342800.5:n.1557-14_1557-8del
ENST00000070846.10:c.1689-14_1689-8del	ENSP00000070846.6:n.1689-14_1689-8del
ENST00000340811.8:c.1557-14_1557-8del	ENSP00000342800.4:n.1557-14_1557-8del
ENST00000546498.1:n.230_236del
ENST00000613243.1:c.1689-14_1689-8del	ENSP00000478295.1:n.1689-14_1689-8del
NM_001005242.2:c.1557-14_1557-8del	NP_001005242.2:n.1557-14_1557-8del
NM_004572.3:c.1689-14_1689-8del , LRG_398t1:c.1689-14_1689-8del	NP_004563.2:n.1689-14_1689-8del
NM_001005242.3:c.1557-14_1557-8del MANE Select	NP_001005242.2:n.1557-14_1557-8del
NM_004572.4:c.1689-14_1689-8del	NP_004563.2:n.1689-14_1689-8del