Canonical Allele Identifier: CA384367986
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2188535
ClinVar RCV Id: RCV002636563
dbSNP Id: rs751517092

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841161T>G , CM000674.2:g.32841161T>G GRCh38
NC_000012.11:g.32994095T>G , CM000674.1:g.32994095T>G GRCh37
NC_000012.10:g.32885362T>G NCBI36
NG_009000.1:g.60686A>C , LRG_398:g.60686A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1423A>C ENSP00000515065.2:p.Met475Leu
ENST00000700563.2:c.1423A>C ENSP00000515066.2:p.Met475Leu
ENST00000700559.1:c.638A>C
ENST00000700560.1:n.638A>C
ENST00000700561.1:n.764A>C
ENST00000700563.1:c.1377A>C
ENST00000700564.1:n.1427A>C
ENST00000700565.1:n.1276A>C
ENST00000070846.11:c.1555A>C ENSP00000070846.6:p.Met519Leu
ENST00000340811.9:c.1423A>C MANE Select ENSP00000342800.5:p.Met475Leu
ENST00000070846.10:c.1555A>C ENSP00000070846.6:p.Met519Leu
ENST00000340811.8:c.1423A>C ENSP00000342800.4:p.Met475Leu
ENST00000613243.1:c.1555A>C ENSP00000478295.1:p.Met519Leu
NM_001005242.2:c.1423A>C NP_001005242.2:p.Met475Leu
NM_004572.3:c.1555A>C , LRG_398t1:c.1555A>C NP_004563.2:p.Met519Leu
NM_001005242.3:c.1423A>C MANE Select NP_001005242.2:p.Met475Leu
NM_004572.4:c.1555A>C NP_004563.2:p.Met519Leu