Canonical Allele Identifier: CA604480602

Gene: PKP2

Linked Data

• dbSNP Id: rs1249830129
• gnomAD v2: 12-32949240-AT-A
• gnomAD v3: 12-32796306-AT-A
• gnomAD v4: 12-32796306-AT-A
• MyVariant Identifiers: chr12:g.32949241del (hg19) ; chr12:g.32796307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796307del , CM000674.2:g.32796307del	GRCh38
NC_000012.11:g.32949241del , CM000674.1:g.32949241del	GRCh37
NC_000012.10:g.32840508del	NCBI36
NG_009000.1:g.105540del , LRG_398:g.105540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-9del
ENST00000700557.2:n.260-9del
ENST00000700559.2:c.2168-3576del	ENSP00000515065.2:n.2168-3576del
ENST00000546498.2:n.855-9del
ENST00000549461.2:n.660-9del
ENST00000700555.1:c.599-9del	ENSP00000515062.1:n.599-9del
ENST00000700556.1:c.639-9del
ENST00000700557.1:c.179-9del	ENSP00000515064.1:n.179-9del
ENST00000700558.1:n.382-9del
ENST00000700559.1:c.1383-3576del
ENST00000700560.1:n.1383-9del
ENST00000700561.1:n.1509-9del
ENST00000070846.11:c.2300-9del	ENSP00000070846.6:n.2300-9del
ENST00000340811.9:c.2168-9del MANE Select	ENSP00000342800.5:n.2168-9del
ENST00000070846.10:c.2300-9del	ENSP00000070846.6:n.2300-9del
ENST00000340811.8:c.2168-9del	ENSP00000342800.4:n.2168-9del
ENST00000613243.1:c.2300-9del	ENSP00000478295.1:n.2300-9del
NM_001005242.2:c.2168-9del	NP_001005242.2:n.2168-9del
NM_004572.3:c.2300-9del , LRG_398t1:c.2300-9del	NP_004563.2:n.2300-9del
NM_001005242.3:c.2168-9del MANE Select	NP_001005242.2:n.2168-9del
NM_004572.4:c.2300-9del	NP_004563.2:n.2300-9del