Canonical Allele Identifier: CA036423

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1516953
• ClinVar RCV Id: RCV002026981 ; RCV003365661
• dbSNP Id: rs773851296
• ExAC: 12:33031916 A / C
• gnomAD v2: 12-33031916-A-C
• gnomAD v3: 12-32878982-A-C
• gnomAD v4: 12-32878982-A-C
• MyVariant Identifiers: chr12:g.33031916A>C (hg19) ; chr12:g.32878982A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878982A>C , CM000674.2:g.32878982A>C	GRCh38
NC_000012.11:g.33031916A>C , CM000674.1:g.33031916A>C	GRCh37
NC_000012.10:g.32923183A>C	NCBI36
NG_009000.1:g.22865T>G , LRG_398:g.22865T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.274T>G	ENSP00000515065.2:p.Leu92Val
ENST00000700563.2:c.274T>G	ENSP00000515066.2:p.Leu92Val
ENST00000700563.1:c.228T>G
ENST00000700564.1:n.278T>G
ENST00000700565.1:n.127T>G
ENST00000070846.11:c.274T>G	ENSP00000070846.6:p.Leu92Val
ENST00000340811.9:c.274T>G MANE Select	ENSP00000342800.5:p.Leu92Val
ENST00000070846.10:c.274T>G	ENSP00000070846.6:p.Leu92Val
ENST00000340811.8:c.274T>G	ENSP00000342800.4:p.Leu92Val
ENST00000613243.1:c.274T>G	ENSP00000478295.1:p.Leu92Val
NM_001005242.2:c.274T>G	NP_001005242.2:p.Leu92Val
NM_004572.3:c.274T>G , LRG_398t1:c.274T>G	NP_004563.2:p.Leu92Val
NM_001005242.3:c.274T>G MANE Select	NP_001005242.2:p.Leu92Val
NM_004572.4:c.274T>G	NP_004563.2:p.Leu92Val