Canonical Allele Identifier: CA2618232259

Gene: PKP2

Linked Data

• gnomAD v4: 12-32851115-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851115C>A , CM000674.2:g.32851115C>A	GRCh38
NC_000012.11:g.33004049C>A , CM000674.1:g.33004049C>A	GRCh37
NC_000012.10:g.32895316C>A	NCBI36
NG_009000.1:g.50732G>T , LRG_398:g.50732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-142G>T	ENSP00000515065.2:n.1171-142G>T
ENST00000700563.2:c.1171-142G>T	ENSP00000515066.2:n.1171-142G>T
ENST00000700559.1:c.386-142G>T
ENST00000700560.1:n.386-142G>T
ENST00000700561.1:n.512-142G>T
ENST00000700563.1:c.1125-142G>T
ENST00000700564.1:n.1175-142G>T
ENST00000700565.1:n.1024-142G>T
ENST00000070846.11:c.1171-142G>T	ENSP00000070846.6:n.1171-142G>T
ENST00000340811.9:c.1171-142G>T MANE Select	ENSP00000342800.5:n.1171-142G>T
ENST00000070846.10:c.1171-142G>T	ENSP00000070846.6:n.1171-142G>T
ENST00000340811.8:c.1171-142G>T	ENSP00000342800.4:n.1171-142G>T
ENST00000613243.1:c.1171-142G>T	ENSP00000478295.1:n.1171-142G>T
NM_001005242.2:c.1171-142G>T	NP_001005242.2:n.1171-142G>T
NM_004572.3:c.1171-142G>T , LRG_398t1:c.1171-142G>T	NP_004563.2:n.1171-142G>T
NM_001005242.3:c.1171-142G>T MANE Select	NP_001005242.2:n.1171-142G>T
NM_004572.4:c.1171-142G>T	NP_004563.2:n.1171-142G>T