Canonical Allele Identifier: CA913189159

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1072271
• ClinVar RCV Id: RCV001384945
• dbSNP Id: rs2137783366

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824102_32824109dup , CM000674.2:g.32824102_32824109dup	GRCh38
NC_000012.11:g.32977036_32977043dup , CM000674.1:g.32977036_32977043dup	GRCh37
NC_000012.10:g.32868303_32868310dup	NCBI36
NG_009000.1:g.77744_77751dup , LRG_398:g.77744_77751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.128_135dup
ENST00000700559.2:c.1616_1623dup	ENSP00000515065.2:p.Val543ThrfsTer?
ENST00000700563.2:c.1616_1623dup	ENSP00000515066.2:p.Val543ThrfsTer?
ENST00000546498.2:n.303_310dup
ENST00000700555.1:c.56_63dup	ENSP00000515062.1:p.Val23ThrfsTer?
ENST00000700556.1:c.87_94dup
ENST00000700559.1:c.831_838dup
ENST00000700560.1:n.831_838dup
ENST00000700561.1:n.957_964dup
ENST00000700563.1:c.1570_1577dup
ENST00000700564.1:n.1620_1627dup
ENST00000070846.11:c.1748_1755dup	ENSP00000070846.6:p.Val587ThrfsTer?
ENST00000340811.9:c.1616_1623dup MANE Select	ENSP00000342800.5:p.Val543ThrfsTer?
ENST00000070846.10:c.1748_1755dup	ENSP00000070846.6:p.Val587ThrfsTer?
ENST00000340811.8:c.1616_1623dup	ENSP00000342800.4:p.Val543ThrfsTer?
ENST00000546498.1:n.303_310dup
ENST00000552612.5:n.37_44dup
ENST00000613243.1:c.1748_1755dup	ENSP00000478295.1:p.Val587ThrfsTer?
NM_001005242.2:c.1616_1623dup	NP_001005242.2:p.Val543ThrfsTer?
NM_004572.3:c.1748_1755dup , LRG_398t1:c.1748_1755dup	NP_004563.2:p.Val587ThrfsTer?
NM_001005242.3:c.1616_1623dup MANE Select	NP_001005242.2:p.Val543ThrfsTer?
NM_004572.4:c.1748_1755dup	NP_004563.2:p.Val587ThrfsTer?