Canonical Allele Identifier: CA261697

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45051
• ClinVar RCV Id: RCV000038191 ; RCV000622111 ; RCV000640004 ; RCV001548469
• dbSNP Id: rs397517013
• gnomAD v4: 12-32822482-G-GCTTC
• MyVariant Identifiers: chr12:g.32975417_32975420dupCTTC (hg19) ; chr12:g.32975416_32975417insCTTC (hg19) ; chr12:g.32822483_32822486dupCTTC (hg38) ; chr12:g.32822482_32822483insCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822483_32822486dup , CM000674.2:g.32822483_32822486dup	GRCh38
NC_000012.11:g.32975417_32975420dup , CM000674.1:g.32975417_32975420dup	GRCh37
NC_000012.10:g.32866684_32866687dup	NCBI36
NG_009000.1:g.79361_79364dup , LRG_398:g.79361_79364dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.332_335dup
ENST00000700559.2:c.1820_1823dup	ENSP00000515065.2:p.Ser608ArgfsTer?
ENST00000700563.2:c.1820_1823dup	ENSP00000515066.2:p.Ser608ArgfsTer?
ENST00000546498.2:n.507_510dup
ENST00000700555.1:c.260_263dup	ENSP00000515062.1:p.Ser88ArgfsTer?
ENST00000700556.1:c.291_294dup
ENST00000700559.1:c.1035_1038dup
ENST00000700560.1:n.1035_1038dup
ENST00000700561.1:n.1161_1164dup
ENST00000700563.1:c.1774_1777dup
ENST00000700564.1:n.1824_1827dup
ENST00000070846.11:c.1952_1955dup	ENSP00000070846.6:p.Ser652ArgfsTer?
ENST00000340811.9:c.1820_1823dup MANE Select	ENSP00000342800.5:p.Ser608ArgfsTer?
ENST00000070846.10:c.1952_1955dup	ENSP00000070846.6:p.Ser652ArgfsTer?
ENST00000340811.8:c.1820_1823dup	ENSP00000342800.4:p.Ser608ArgfsTer?
ENST00000546498.1:n.507_510dup
ENST00000552612.5:n.241_244dup
ENST00000613243.1:c.1952_1955dup	ENSP00000478295.1:p.Ser652ArgfsTer?
NM_001005242.2:c.1820_1823dup	NP_001005242.2:p.Ser608ArgfsTer?
NM_004572.3:c.1952_1955dup , LRG_398t1:c.1952_1955dup	NP_004563.2:p.Ser652ArgfsTer?
NM_001005242.3:c.1820_1823dup MANE Select	NP_001005242.2:p.Ser608ArgfsTer?
NM_004572.4:c.1952_1955dup	NP_004563.2:p.Ser652ArgfsTer?