Canonical Allele Identifier: CA035342

Gene: PKP2

Linked Data

• ClinVar Variation Id: 923173
• ClinVar RCV Id: RCV001183660 ; RCV001210852 ; RCV001556392 ; RCV004008397
• dbSNP Id: rs768463319
• ExAC: 12:32949044 C / G
• gnomAD v2: 12-32949044-C-G
• gnomAD v3: 12-32796110-C-G
• gnomAD v4: 12-32796110-C-G
• MyVariant Identifiers: chr12:g.32949044C>G (hg19) ; chr12:g.32796110C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.859G>C
ENST00000700557.2:n.448G>C
ENST00000700559.2:c.2168-3379G>C	ENSP00000515065.2:n.2168-3379G>C
ENST00000546498.2:n.1043G>C
ENST00000549461.2:n.848G>C
ENST00000700555.1:c.787G>C	ENSP00000515062.1:p.Ala263Pro
ENST00000700556.1:c.827G>C
ENST00000700557.1:c.367G>C	ENSP00000515064.1:p.Ala123Pro
ENST00000700558.1:n.570G>C
ENST00000700559.1:c.1383-3379G>C
ENST00000700560.1:n.1571G>C
ENST00000700561.1:n.1697G>C
ENST00000070846.11:c.2488G>C	ENSP00000070846.6:p.Ala830Pro
ENST00000340811.9:c.2356G>C MANE Select	ENSP00000342800.5:p.Ala786Pro
ENST00000070846.10:c.2488G>C	ENSP00000070846.6:p.Ala830Pro
ENST00000340811.8:c.2356G>C	ENSP00000342800.4:p.Ala786Pro
ENST00000613243.1:c.2486G>C	ENSP00000478295.1:n.2486G>C
NM_001005242.2:c.2356G>C	NP_001005242.2:p.Ala786Pro
NM_004572.3:c.2488G>C , LRG_398t1:c.2488G>C	NP_004563.2:p.Ala830Pro
NM_001005242.3:c.2356G>C MANE Select	NP_001005242.2:p.Ala786Pro
NM_004572.4:c.2488G>C	NP_004563.2:p.Ala830Pro