Canonical Allele Identifier: CA604225710

Gene: PKP2

Linked Data

• dbSNP Id: rs1295399615
• gnomAD v2: 12-32975346-C-T
• gnomAD v3: 12-32822412-C-T
• gnomAD v4: 12-32822412-C-T
• MyVariant Identifiers: chr12:g.32975346C>T (hg19) ; chr12:g.32822412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822412C>T , CM000674.2:g.32822412C>T	GRCh38
NC_000012.11:g.32975346C>T , CM000674.1:g.32975346C>T	GRCh37
NC_000012.10:g.32866613C>T	NCBI36
NG_009000.1:g.79435G>A , LRG_398:g.79435G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.342+64G>A
ENST00000700559.2:c.1839+55G>A	ENSP00000515065.2:n.1839+55G>A
ENST00000700563.2:c.1839+55G>A	ENSP00000515066.2:n.1839+55G>A
ENST00000546498.2:n.526+55G>A
ENST00000700555.1:c.270+64G>A	ENSP00000515062.1:n.270+64G>A
ENST00000700556.1:c.310+55G>A
ENST00000700559.1:c.1054+55G>A
ENST00000700560.1:n.1054+55G>A
ENST00000700561.1:n.1180+55G>A
ENST00000700563.1:c.1793+55G>A
ENST00000700564.1:n.1843+55G>A
ENST00000070846.11:c.1971+55G>A	ENSP00000070846.6:n.1971+55G>A
ENST00000340811.9:c.1839+55G>A MANE Select	ENSP00000342800.5:n.1839+55G>A
ENST00000070846.10:c.1971+55G>A	ENSP00000070846.6:n.1971+55G>A
ENST00000340811.8:c.1839+55G>A	ENSP00000342800.4:n.1839+55G>A
ENST00000546498.1:n.526+55G>A
ENST00000552612.5:n.260+55G>A
ENST00000613243.1:c.1971+55G>A	ENSP00000478295.1:n.1971+55G>A
NM_001005242.2:c.1839+55G>A	NP_001005242.2:n.1839+55G>A
NM_004572.3:c.1971+55G>A , LRG_398t1:c.1971+55G>A	NP_004563.2:n.1971+55G>A
NM_001005242.3:c.1839+55G>A MANE Select	NP_001005242.2:n.1839+55G>A
NM_004572.4:c.1971+55G>A	NP_004563.2:n.1971+55G>A