Canonical Allele Identifier: CA10637290

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308486
• ClinVar RCV Id: RCV000332558
• dbSNP Id: rs886049313
• MyVariant Identifiers: chr12:g.32944605G>C (hg19) ; chr12:g.32791671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32791671G>C , CM000674.2:g.32791671G>C	GRCh38
NC_000012.11:g.32944605G>C , CM000674.1:g.32944605G>C	GRCh37
NC_000012.10:g.32835872G>C	NCBI36
NG_009000.1:g.110176C>G , LRG_398:g.110176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1770C>G
ENST00000700557.2:n.1359C>G
ENST00000700559.2:c.*608C>G	ENSP00000515065.2:n.*608C>G
ENST00000549461.2:n.1759C>G
ENST00000700555.1:c.*753C>G	ENSP00000515062.1:n.*753C>G
ENST00000700556.1:c.1738C>G
ENST00000700557.1:c.*753C>G	ENSP00000515064.1:n.*753C>G
ENST00000070846.11:c.*753C>G	ENSP00000070846.6:n.*753C>G
ENST00000340811.9:c.*753C>G MANE Select	ENSP00000342800.5:n.*753C>G
ENST00000070846.10:c.*753C>G	ENSP00000070846.6:n.*753C>G
ENST00000340811.8:c.*753C>G	ENSP00000342800.4:n.*753C>G
NM_001005242.2:c.*753C>G	NP_001005242.2:n.*753C>G
NM_004572.3:c.*753C>G , LRG_398t1:c.*753C>G	NP_004563.2:n.*753C>G
NM_001005242.3:c.*753C>G MANE Select	NP_001005242.2:n.*753C>G
NM_004572.4:c.*753C>G	NP_004563.2:n.*753C>G