Canonical Allele Identifier: CA2594401120

Gene: PKP2

Linked Data

• dbSNP Id: rs2137776789
• gnomAD v3: 12-32822399-A-G
• gnomAD v4: 12-32822399-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822399A>G , CM000674.2:g.32822399A>G	GRCh38
NC_000012.11:g.32975333A>G , CM000674.1:g.32975333A>G	GRCh37
NC_000012.10:g.32866600A>G	NCBI36
NG_009000.1:g.79448T>C , LRG_398:g.79448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.342+77T>C
ENST00000700559.2:c.1839+68T>C	ENSP00000515065.2:n.1839+68T>C
ENST00000700563.2:c.1839+68T>C	ENSP00000515066.2:n.1839+68T>C
ENST00000546498.2:n.526+68T>C
ENST00000700555.1:c.270+77T>C	ENSP00000515062.1:n.270+77T>C
ENST00000700556.1:c.310+68T>C
ENST00000700559.1:c.1054+68T>C
ENST00000700560.1:n.1054+68T>C
ENST00000700561.1:n.1180+68T>C
ENST00000700563.1:c.1793+68T>C
ENST00000700564.1:n.1843+68T>C
ENST00000070846.11:c.1971+68T>C	ENSP00000070846.6:n.1971+68T>C
ENST00000340811.9:c.1839+68T>C MANE Select	ENSP00000342800.5:n.1839+68T>C
ENST00000070846.10:c.1971+68T>C	ENSP00000070846.6:n.1971+68T>C
ENST00000340811.8:c.1839+68T>C	ENSP00000342800.4:n.1839+68T>C
ENST00000546498.1:n.526+68T>C
ENST00000552612.5:n.260+68T>C
ENST00000613243.1:c.1971+68T>C	ENSP00000478295.1:n.1971+68T>C
NM_001005242.2:c.1839+68T>C	NP_001005242.2:n.1839+68T>C
NM_004572.3:c.1971+68T>C , LRG_398t1:c.1971+68T>C	NP_004563.2:n.1971+68T>C
NM_001005242.3:c.1839+68T>C MANE Select	NP_001005242.2:n.1839+68T>C
NM_004572.4:c.1971+68T>C	NP_004563.2:n.1971+68T>C