Canonical Allele Identifier: CA031392

Gene: PKP2

Linked Data

• dbSNP Id: rs753970863
• ExAC: 12:32975453 T / C
• gnomAD v2: 12-32975453-T-C
• gnomAD v3: 12-32822519-T-C
• gnomAD v4: 12-32822519-T-C
• MyVariant Identifiers: chr12:g.32975453T>C (hg19) ; chr12:g.32822519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822519T>C , CM000674.2:g.32822519T>C	GRCh38
NC_000012.11:g.32975453T>C , CM000674.1:g.32975453T>C	GRCh37
NC_000012.10:g.32866720T>C	NCBI36
NG_009000.1:g.79328A>G , LRG_398:g.79328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.299A>G
ENST00000700559.2:c.1787A>G	ENSP00000515065.2:p.Asp596Gly
ENST00000700563.2:c.1787A>G	ENSP00000515066.2:p.Asp596Gly
ENST00000546498.2:n.474A>G
ENST00000700555.1:c.227A>G	ENSP00000515062.1:p.Asp76Gly
ENST00000700556.1:c.258A>G
ENST00000700559.1:c.1002A>G
ENST00000700560.1:n.1002A>G
ENST00000700561.1:n.1128A>G
ENST00000700563.1:c.1741A>G
ENST00000700564.1:n.1791A>G
ENST00000070846.11:c.1919A>G	ENSP00000070846.6:p.Asp640Gly
ENST00000340811.9:c.1787A>G MANE Select	ENSP00000342800.5:p.Asp596Gly
ENST00000070846.10:c.1919A>G	ENSP00000070846.6:p.Asp640Gly
ENST00000340811.8:c.1787A>G	ENSP00000342800.4:p.Asp596Gly
ENST00000546498.1:n.474A>G
ENST00000552612.5:n.208A>G
ENST00000613243.1:c.1919A>G	ENSP00000478295.1:p.Asp640Gly
NM_001005242.2:c.1787A>G	NP_001005242.2:p.Asp596Gly
NM_004572.3:c.1919A>G , LRG_398t1:c.1919A>G	NP_004563.2:p.Asp640Gly
NM_001005242.3:c.1787A>G MANE Select	NP_001005242.2:p.Asp596Gly
NM_004572.4:c.1919A>G	NP_004563.2:p.Asp640Gly