Canonical Allele Identifier: CA031627

Gene: PKP2

Linked Data

• ClinVar Variation Id: 864395
• ClinVar RCV Id: RCV001071572 ; RCV001526130 ; RCV002418566 ; RCV002462325 ; RCV004000204
• dbSNP Id: rs775103879
• ExAC: 12:32975415 T / C
• gnomAD v2: 12-32975415-T-C
• gnomAD v3: 12-32822481-T-C
• gnomAD v4: 12-32822481-T-C
• MyVariant Identifiers: chr12:g.32975415T>C (hg19) ; chr12:g.32822481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822481T>C , CM000674.2:g.32822481T>C	GRCh38
NC_000012.11:g.32975415T>C , CM000674.1:g.32975415T>C	GRCh37
NC_000012.10:g.32866682T>C	NCBI36
NG_009000.1:g.79366A>G , LRG_398:g.79366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.337A>G
ENST00000700559.2:c.1825A>G	ENSP00000515065.2:p.Arg609Gly
ENST00000700563.2:c.1825A>G	ENSP00000515066.2:p.Arg609Gly
ENST00000546498.2:n.512A>G
ENST00000700555.1:c.265A>G	ENSP00000515062.1:p.Arg89Gly
ENST00000700556.1:c.296A>G
ENST00000700559.1:c.1040A>G
ENST00000700560.1:n.1040A>G
ENST00000700561.1:n.1166A>G
ENST00000700563.1:c.1779A>G
ENST00000700564.1:n.1829A>G
ENST00000070846.11:c.1957A>G	ENSP00000070846.6:p.Arg653Gly
ENST00000340811.9:c.1825A>G MANE Select	ENSP00000342800.5:p.Arg609Gly
ENST00000070846.10:c.1957A>G	ENSP00000070846.6:p.Arg653Gly
ENST00000340811.8:c.1825A>G	ENSP00000342800.4:p.Arg609Gly
ENST00000546498.1:n.512A>G
ENST00000552612.5:n.246A>G
ENST00000613243.1:c.1957A>G	ENSP00000478295.1:p.Arg653Gly
NM_001005242.2:c.1825A>G	NP_001005242.2:p.Arg609Gly
NM_004572.3:c.1957A>G , LRG_398t1:c.1957A>G	NP_004563.2:p.Arg653Gly
NM_001005242.3:c.1825A>G MANE Select	NP_001005242.2:p.Arg609Gly
NM_004572.4:c.1957A>G	NP_004563.2:p.Arg653Gly