Canonical Allele Identifier: CA479170722

Gene: PKP2

Linked Data

• ClinVar Variation Id: 517935
• ClinVar RCV Id: RCV000604294 ; RCV002531697 ; RCV004002631
• dbSNP Id: rs1555140707
• MyVariant Identifiers: chr12:g.32945665G>A (hg19) ; chr12:g.32792731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792731G>A , CM000674.2:g.32792731G>A	GRCh38
NC_000012.11:g.32945665G>A , CM000674.1:g.32945665G>A	GRCh37
NC_000012.10:g.32836932G>A	NCBI36
NG_009000.1:g.109116C>T , LRG_398:g.109116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.861C>T
ENST00000700557.2:n.450C>T
ENST00000700559.2:c.2168C>T	ENSP00000515065.2:p.Ala723Val
ENST00000546498.2:n.1045C>T
ENST00000549461.2:n.850C>T
ENST00000700555.1:c.789C>T	ENSP00000515062.1:p.Ala263=
ENST00000700556.1:c.829C>T
ENST00000700557.1:c.369C>T	ENSP00000515064.1:p.Ala123=
ENST00000700558.1:n.572C>T
ENST00000700559.1:c.1383C>T
ENST00000700560.1:n.1573C>T
ENST00000070846.11:c.2490C>T	ENSP00000070846.6:p.Ala830=
ENST00000340811.9:c.2358C>T MANE Select	ENSP00000342800.5:p.Ala786=
ENST00000070846.10:c.2490C>T	ENSP00000070846.6:p.Ala830=
ENST00000340811.8:c.2358C>T	ENSP00000342800.4:p.Ala786=
ENST00000546769.1:n.145C>T
ENST00000613243.1:c.2488C>T	ENSP00000478295.1:n.2488C>T
NM_001005242.2:c.2358C>T	NP_001005242.2:p.Ala786=
NM_004572.3:c.2490C>T , LRG_398t1:c.2490C>T	NP_004563.2:p.Ala830=
NM_001005242.3:c.2358C>T MANE Select	NP_001005242.2:p.Ala786=
NM_004572.4:c.2490C>T	NP_004563.2:p.Ala830=