Canonical Allele Identifier: CA6508290

Gene: PKP2

Linked Data

• ClinVar Variation Id: 920580
• ClinVar RCV Id: RCV001179429
• dbSNP Id: rs121434421
• ExAC: 12:32955433 G / C
• gnomAD v2: 12-32955433-G-C
• gnomAD v3: 12-32802499-G-C
• gnomAD v4: 12-32802499-G-C
• MyVariant Identifiers: chr12:g.32955433G>C (hg19) ; chr12:g.32955433_32955438delinsCGGTGT (hg19) ; chr12:g.32802499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802499G>C , CM000674.2:g.32802499G>C	GRCh38
NC_000012.11:g.32955433G>C , CM000674.1:g.32955433G>C	GRCh37
NC_000012.10:g.32846700G>C	NCBI36
NG_009000.1:g.99348C>G , LRG_398:g.99348C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.574C>G
ENST00000700557.2:n.163C>G
ENST00000700559.2:c.2071C>G	ENSP00000515065.2:p.Arg691Gly
ENST00000546498.2:n.758C>G
ENST00000549461.2:n.610C>G
ENST00000700555.1:c.502C>G	ENSP00000515062.1:p.Arg168Gly
ENST00000700556.1:c.542C>G
ENST00000700557.1:c.82C>G	ENSP00000515064.1:p.Arg28Gly
ENST00000700558.1:n.285C>G
ENST00000700559.1:c.1286C>G
ENST00000700560.1:n.1286C>G
ENST00000700561.1:n.1412C>G
ENST00000070846.11:c.2203C>G	ENSP00000070846.6:p.Arg735Gly
ENST00000340811.9:c.2071C>G MANE Select	ENSP00000342800.5:p.Arg691Gly
ENST00000070846.10:c.2203C>G	ENSP00000070846.6:p.Arg735Gly
ENST00000340811.8:c.2071C>G	ENSP00000342800.4:p.Arg691Gly
ENST00000549461.1:n.517C>G
ENST00000613243.1:c.2203C>G	ENSP00000478295.1:p.Arg735Gly
NM_001005242.2:c.2071C>G	NP_001005242.2:p.Arg691Gly
NM_004572.3:c.2203C>G , LRG_398t1:c.2203C>G	NP_004563.2:p.Arg735Gly
NM_001005242.3:c.2071C>G MANE Select	NP_001005242.2:p.Arg691Gly
NM_004572.4:c.2203C>G	NP_004563.2:p.Arg735Gly