Canonical Allele Identifier: CA2618225570

Gene: PKP2

Linked Data

• gnomAD v4: 12-32822702-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822702C>G , CM000674.2:g.32822702C>G	GRCh38
NC_000012.11:g.32975636C>G , CM000674.1:g.32975636C>G	GRCh37
NC_000012.10:g.32866903C>G	NCBI36
NG_009000.1:g.79145G>C , LRG_398:g.79145G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-71G>C
ENST00000700559.2:c.1675-71G>C	ENSP00000515065.2:n.1675-71G>C
ENST00000700563.2:c.1675-71G>C	ENSP00000515066.2:n.1675-71G>C
ENST00000546498.2:n.362-71G>C
ENST00000700555.1:c.115-71G>C	ENSP00000515062.1:n.115-71G>C
ENST00000700556.1:c.146-71G>C
ENST00000700559.1:c.890-71G>C
ENST00000700560.1:n.890-71G>C
ENST00000700561.1:n.1016-71G>C
ENST00000700563.1:c.1629-71G>C
ENST00000700564.1:n.1679-71G>C
ENST00000070846.11:c.1807-71G>C	ENSP00000070846.6:n.1807-71G>C
ENST00000340811.9:c.1675-71G>C MANE Select	ENSP00000342800.5:n.1675-71G>C
ENST00000070846.10:c.1807-71G>C	ENSP00000070846.6:n.1807-71G>C
ENST00000340811.8:c.1675-71G>C	ENSP00000342800.4:n.1675-71G>C
ENST00000546498.1:n.362-71G>C
ENST00000552612.5:n.96-71G>C
ENST00000613243.1:c.1807-71G>C	ENSP00000478295.1:n.1807-71G>C
NM_001005242.2:c.1675-71G>C	NP_001005242.2:n.1675-71G>C
NM_004572.3:c.1807-71G>C , LRG_398t1:c.1807-71G>C	NP_004563.2:n.1807-71G>C
NM_001005242.3:c.1675-71G>C MANE Select	NP_001005242.2:n.1675-71G>C
NM_004572.4:c.1807-71G>C	NP_004563.2:n.1807-71G>C