Canonical Allele Identifier: CA027068

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1494445
• ClinVar RCV Id: RCV001989350
• dbSNP Id: rs771293688
• ExAC: 12:33021925 C / T
• gnomAD v2: 12-33021925-C-T
• gnomAD v4: 12-32868991-C-T
• MyVariant Identifiers: chr12:g.33021925C>T (hg19) ; chr12:g.32868991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868991C>T , CM000674.2:g.32868991C>T	GRCh38
NC_000012.11:g.33021925C>T , CM000674.1:g.33021925C>T	GRCh37
NC_000012.10:g.32913192C>T	NCBI36
NG_009000.1:g.32856G>A , LRG_398:g.32856G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1106G>A	ENSP00000515065.2:p.Arg369Lys
ENST00000700563.2:c.1106G>A	ENSP00000515066.2:p.Arg369Lys
ENST00000700559.1:c.321G>A
ENST00000700560.1:n.321G>A
ENST00000700561.1:n.447G>A
ENST00000700563.1:c.1060G>A
ENST00000700564.1:n.1110G>A
ENST00000700565.1:n.959G>A
ENST00000070846.11:c.1106G>A	ENSP00000070846.6:p.Arg369Lys
ENST00000340811.9:c.1106G>A MANE Select	ENSP00000342800.5:p.Arg369Lys
ENST00000070846.10:c.1106G>A	ENSP00000070846.6:p.Arg369Lys
ENST00000340811.8:c.1106G>A	ENSP00000342800.4:p.Arg369Lys
ENST00000613243.1:c.1106G>A	ENSP00000478295.1:p.Arg369Lys
NM_001005242.2:c.1106G>A	NP_001005242.2:p.Arg369Lys
NM_004572.3:c.1106G>A , LRG_398t1:c.1106G>A	NP_004563.2:p.Arg369Lys
NM_001005242.3:c.1106G>A MANE Select	NP_001005242.2:p.Arg369Lys
NM_004572.4:c.1106G>A	NP_004563.2:p.Arg369Lys