Canonical Allele Identifier: CA384357473

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1171547
• ClinVar RCV Id: RCV001524744 ; RCV003771588
• dbSNP Id: rs768463319
• MyVariant Identifiers: chr12:g.32949044C>T (hg19) ; chr12:g.32796110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796110C>T , CM000674.2:g.32796110C>T	GRCh38
NC_000012.11:g.32949044C>T , CM000674.1:g.32949044C>T	GRCh37
NC_000012.10:g.32840311C>T	NCBI36
NG_009000.1:g.105737G>A , LRG_398:g.105737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.859G>A
ENST00000700557.2:n.448G>A
ENST00000700559.2:c.2168-3379G>A	ENSP00000515065.2:n.2168-3379G>A
ENST00000546498.2:n.1043G>A
ENST00000549461.2:n.848G>A
ENST00000700555.1:c.787G>A	ENSP00000515062.1:p.Ala263Thr
ENST00000700556.1:c.827G>A
ENST00000700557.1:c.367G>A	ENSP00000515064.1:p.Ala123Thr
ENST00000700558.1:n.570G>A
ENST00000700559.1:c.1383-3379G>A
ENST00000700560.1:n.1571G>A
ENST00000700561.1:n.1697G>A
ENST00000070846.11:c.2488G>A	ENSP00000070846.6:p.Ala830Thr
ENST00000340811.9:c.2356G>A MANE Select	ENSP00000342800.5:p.Ala786Thr
ENST00000070846.10:c.2488G>A	ENSP00000070846.6:p.Ala830Thr
ENST00000340811.8:c.2356G>A	ENSP00000342800.4:p.Ala786Thr
ENST00000613243.1:c.2486G>A	ENSP00000478295.1:n.2486G>A
NM_001005242.2:c.2356G>A	NP_001005242.2:p.Ala786Thr
NM_004572.3:c.2488G>A , LRG_398t1:c.2488G>A	NP_004563.2:p.Ala830Thr
NM_001005242.3:c.2356G>A MANE Select	NP_001005242.2:p.Ala786Thr
NM_004572.4:c.2488G>A	NP_004563.2:p.Ala830Thr