Canonical Allele Identifier: CA687431422

Gene: PKP2

Linked Data

• dbSNP Id: rs1235850370
• gnomAD v3: 12-32796548-AATTTTTTT-A
• gnomAD v4: 12-32796548-AATTTTTTT-A
• MyVariant Identifiers: chr12:g.32949483_32949490del (hg19) ; chr12:g.32796549_32796556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796565_32796572del , CM000674.2:g.32796565_32796572del	GRCh38
NC_000012.11:g.32949499_32949506del , CM000674.1:g.32949499_32949506del	GRCh37
NC_000012.10:g.32840766_32840773del	NCBI36
NG_009000.1:g.105291_105298del , LRG_398:g.105291_105298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-258_671-251del
ENST00000700557.2:n.260-258_260-251del
ENST00000700559.2:c.2168-3825_2168-3818del	ENSP00000515065.2:n.2168-3825_2168-3818del
ENST00000546498.2:n.855-258_855-251del
ENST00000549461.2:n.660-258_660-251del
ENST00000700555.1:c.599-258_599-251del	ENSP00000515062.1:n.599-258_599-251del
ENST00000700556.1:c.639-258_639-251del
ENST00000700557.1:c.179-258_179-251del	ENSP00000515064.1:n.179-258_179-251del
ENST00000700558.1:n.382-258_382-251del
ENST00000700559.1:c.1383-3825_1383-3818del
ENST00000700560.1:n.1383-258_1383-251del
ENST00000700561.1:n.1509-258_1509-251del
ENST00000070846.11:c.2300-258_2300-251del	ENSP00000070846.6:n.2300-258_2300-251del
ENST00000340811.9:c.2168-258_2168-251del MANE Select	ENSP00000342800.5:n.2168-258_2168-251del
ENST00000070846.10:c.2300-258_2300-251del	ENSP00000070846.6:n.2300-258_2300-251del
ENST00000340811.8:c.2168-258_2168-251del	ENSP00000342800.4:n.2168-258_2168-251del
ENST00000613243.1:c.2300-258_2300-251del	ENSP00000478295.1:n.2300-258_2300-251del
NM_001005242.2:c.2168-258_2168-251del	NP_001005242.2:n.2168-258_2168-251del
NM_004572.3:c.2300-258_2300-251del , LRG_398t1:c.2300-258_2300-251del	NP_004563.2:n.2300-258_2300-251del
NM_001005242.3:c.2168-258_2168-251del MANE Select	NP_001005242.2:n.2168-258_2168-251del
NM_004572.4:c.2300-258_2300-251del	NP_004563.2:n.2300-258_2300-251del