Canonical Allele Identifier: CA2026373843

Gene: PKP2

Linked Data

• dbSNP Id: rs1956188839
• gnomAD v4: 12-32802336-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802340_32802342del , CM000674.2:g.32802340_32802342del	GRCh38
NC_000012.11:g.32955274_32955276del , CM000674.1:g.32955274_32955276del	GRCh37
NC_000012.10:g.32846541_32846543del	NCBI36
NG_009000.1:g.99508_99510del , LRG_398:g.99508_99510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+64_670+66del
ENST00000700557.2:n.259+64_259+66del
ENST00000700559.2:c.2167+64_2167+66del	ENSP00000515065.2:n.2167+64_2167+66del
ENST00000546498.2:n.854+64_854+66del
ENST00000549461.2:n.659+111_659+113del
ENST00000700555.1:c.598+64_598+66del	ENSP00000515062.1:n.598+64_598+66del
ENST00000700556.1:c.638+64_638+66del
ENST00000700557.1:c.178+64_178+66del	ENSP00000515064.1:n.178+64_178+66del
ENST00000700558.1:n.381+64_381+66del
ENST00000700559.1:c.1382+64_1382+66del
ENST00000700560.1:n.1382+64_1382+66del
ENST00000700561.1:n.1508+64_1508+66del
ENST00000070846.11:c.2299+64_2299+66del	ENSP00000070846.6:n.2299+64_2299+66del
ENST00000340811.9:c.2167+64_2167+66del MANE Select	ENSP00000342800.5:n.2167+64_2167+66del
ENST00000070846.10:c.2299+64_2299+66del	ENSP00000070846.6:n.2299+64_2299+66del
ENST00000340811.8:c.2167+64_2167+66del	ENSP00000342800.4:n.2167+64_2167+66del
ENST00000613243.1:c.2299+64_2299+66del	ENSP00000478295.1:n.2299+64_2299+66del
NM_001005242.2:c.2167+64_2167+66del	NP_001005242.2:n.2167+64_2167+66del
NM_004572.3:c.2299+64_2299+66del , LRG_398t1:c.2299+64_2299+66del	NP_004563.2:n.2299+64_2299+66del
NM_001005242.3:c.2167+64_2167+66del MANE Select	NP_001005242.2:n.2167+64_2167+66del
NM_004572.4:c.2299+64_2299+66del	NP_004563.2:n.2299+64_2299+66del