Canonical Allele Identifier: CA384370656

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1496151
• ClinVar RCV Id: RCV002015461
• dbSNP Id: rs192041220
• gnomAD v4: 12-32850913-C-A
• MyVariant Identifiers: chr12:g.33003847C>A (hg19) ; chr12:g.32850913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850913C>A , CM000674.2:g.32850913C>A	GRCh38
NC_000012.11:g.33003847C>A , CM000674.1:g.33003847C>A	GRCh37
NC_000012.10:g.32895114C>A	NCBI36
NG_009000.1:g.50934G>T , LRG_398:g.50934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1231G>T	ENSP00000515065.2:p.Val411Phe
ENST00000700563.2:c.1231G>T	ENSP00000515066.2:p.Val411Phe
ENST00000700559.1:c.446G>T
ENST00000700560.1:n.446G>T
ENST00000700561.1:n.572G>T
ENST00000700563.1:c.1185G>T
ENST00000700564.1:n.1235G>T
ENST00000700565.1:n.1084G>T
ENST00000070846.11:c.1231G>T	ENSP00000070846.6:p.Val411Phe
ENST00000340811.9:c.1231G>T MANE Select	ENSP00000342800.5:p.Val411Phe
ENST00000070846.10:c.1231G>T	ENSP00000070846.6:p.Val411Phe
ENST00000340811.8:c.1231G>T	ENSP00000342800.4:p.Val411Phe
ENST00000613243.1:c.1231G>T	ENSP00000478295.1:p.Val411Phe
NM_001005242.2:c.1231G>T	NP_001005242.2:p.Val411Phe
NM_004572.3:c.1231G>T , LRG_398t1:c.1231G>T	NP_004563.2:p.Val411Phe
NM_001005242.3:c.1231G>T MANE Select	NP_001005242.2:p.Val411Phe
NM_004572.4:c.1231G>T	NP_004563.2:p.Val411Phe