Canonical Allele Identifier: CA6508288

Gene: PKP2

Linked Data

• dbSNP Id: rs774862511
• ExAC: 12:32955314 CAT / C
• gnomAD v2: 12-32955314-CAT-C
• gnomAD v3: 12-32802380-CAT-C
• gnomAD v4: 12-32802380-CAT-C
• MyVariant Identifiers: chr12:g.32955315_32955316del (hg19) ; chr12:g.32802381_32802382del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802382_32802383del , CM000674.2:g.32802382_32802383del	GRCh38
NC_000012.11:g.32955316_32955317del , CM000674.1:g.32955316_32955317del	GRCh37
NC_000012.10:g.32846583_32846584del	NCBI36
NG_009000.1:g.99465_99466del , LRG_398:g.99465_99466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+21_670+22del
ENST00000700557.2:n.259+21_259+22del
ENST00000700559.2:c.2167+21_2167+22del	ENSP00000515065.2:n.2167+21_2167+22del
ENST00000546498.2:n.854+21_854+22del
ENST00000549461.2:n.659+68_659+69del
ENST00000700555.1:c.598+21_598+22del	ENSP00000515062.1:n.598+21_598+22del
ENST00000700556.1:c.638+21_638+22del
ENST00000700557.1:c.178+21_178+22del	ENSP00000515064.1:n.178+21_178+22del
ENST00000700558.1:n.381+21_381+22del
ENST00000700559.1:c.1382+21_1382+22del
ENST00000700560.1:n.1382+21_1382+22del
ENST00000700561.1:n.1508+21_1508+22del
ENST00000070846.11:c.2299+21_2299+22del	ENSP00000070846.6:n.2299+21_2299+22del
ENST00000340811.9:c.2167+21_2167+22del MANE Select	ENSP00000342800.5:n.2167+21_2167+22del
ENST00000070846.10:c.2299+21_2299+22del	ENSP00000070846.6:n.2299+21_2299+22del
ENST00000340811.8:c.2167+21_2167+22del	ENSP00000342800.4:n.2167+21_2167+22del
ENST00000613243.1:c.2299+21_2299+22del	ENSP00000478295.1:n.2299+21_2299+22del
NM_001005242.2:c.2167+21_2167+22del	NP_001005242.2:n.2167+21_2167+22del
NM_004572.3:c.2299+21_2299+22del , LRG_398t1:c.2299+21_2299+22del	NP_004563.2:n.2299+21_2299+22del
NM_001005242.3:c.2167+21_2167+22del MANE Select	NP_001005242.2:n.2167+21_2167+22del
NM_004572.4:c.2299+21_2299+22del	NP_004563.2:n.2299+21_2299+22del