Canonical Allele Identifier: CA479174583

Gene: PKP2

Linked Data

• ClinVar Variation Id: 533044
• ClinVar RCV Id: RCV000640028
• dbSNP Id: rs892666132
• MyVariant Identifiers: chr12:g.33021927G>C (hg19) ; chr12:g.32868993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868993G>C , CM000674.2:g.32868993G>C	GRCh38
NC_000012.11:g.33021927G>C , CM000674.1:g.33021927G>C	GRCh37
NC_000012.10:g.32913194G>C	NCBI36
NG_009000.1:g.32854C>G , LRG_398:g.32854C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1104C>G	ENSP00000515065.2:p.Ser368=
ENST00000700563.2:c.1104C>G	ENSP00000515066.2:p.Ser368=
ENST00000700559.1:c.319C>G
ENST00000700560.1:n.319C>G
ENST00000700561.1:n.445C>G
ENST00000700563.1:c.1058C>G
ENST00000700564.1:n.1108C>G
ENST00000700565.1:n.957C>G
ENST00000070846.11:c.1104C>G	ENSP00000070846.6:p.Ser368=
ENST00000340811.9:c.1104C>G MANE Select	ENSP00000342800.5:p.Ser368=
ENST00000070846.10:c.1104C>G	ENSP00000070846.6:p.Ser368=
ENST00000340811.8:c.1104C>G	ENSP00000342800.4:p.Ser368=
ENST00000613243.1:c.1104C>G	ENSP00000478295.1:p.Ser368=
NM_001005242.2:c.1104C>G	NP_001005242.2:p.Ser368=
NM_004572.3:c.1104C>G , LRG_398t1:c.1104C>G	NP_004563.2:p.Ser368=
NM_001005242.3:c.1104C>G MANE Select	NP_001005242.2:p.Ser368=
NM_004572.4:c.1104C>G	NP_004563.2:p.Ser368=