Canonical Allele Identifier: CA2618223098

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802338-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802338C>G , CM000674.2:g.32802338C>G	GRCh38
NC_000012.11:g.32955272C>G , CM000674.1:g.32955272C>G	GRCh37
NC_000012.10:g.32846539C>G	NCBI36
NG_009000.1:g.99509G>C , LRG_398:g.99509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+65G>C
ENST00000700557.2:n.259+65G>C
ENST00000700559.2:c.2167+65G>C	ENSP00000515065.2:n.2167+65G>C
ENST00000546498.2:n.854+65G>C
ENST00000549461.2:n.659+112G>C
ENST00000700555.1:c.598+65G>C	ENSP00000515062.1:n.598+65G>C
ENST00000700556.1:c.638+65G>C
ENST00000700557.1:c.178+65G>C	ENSP00000515064.1:n.178+65G>C
ENST00000700558.1:n.381+65G>C
ENST00000700559.1:c.1382+65G>C
ENST00000700560.1:n.1382+65G>C
ENST00000700561.1:n.1508+65G>C
ENST00000070846.11:c.2299+65G>C	ENSP00000070846.6:n.2299+65G>C
ENST00000340811.9:c.2167+65G>C MANE Select	ENSP00000342800.5:n.2167+65G>C
ENST00000070846.10:c.2299+65G>C	ENSP00000070846.6:n.2299+65G>C
ENST00000340811.8:c.2167+65G>C	ENSP00000342800.4:n.2167+65G>C
ENST00000613243.1:c.2299+65G>C	ENSP00000478295.1:n.2299+65G>C
NM_001005242.2:c.2167+65G>C	NP_001005242.2:n.2167+65G>C
NM_004572.3:c.2299+65G>C , LRG_398t1:c.2299+65G>C	NP_004563.2:n.2299+65G>C
NM_001005242.3:c.2167+65G>C MANE Select	NP_001005242.2:n.2167+65G>C
NM_004572.4:c.2299+65G>C	NP_004563.2:n.2299+65G>C