Canonical Allele Identifier: CA011757
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6756
ClinVar RCV Id: RCV000007148 RCV000054811 RCV000183771 RCV000252055 RCV000771879 RCV003924809
dbSNP Id: rs193922674
ExAC: 12:32955491 C / G
gnomAD v2: 12-32955491-C-G
gnomAD v3: 12-32802557-C-G
gnomAD v4: 12-32802557-C-G
MyVariant Identifiers: chr12:g.32955491C>G (hg19) chr12:g.32802557C>G (hg38)
PubMed: PMID:15489853 PMID:16415378 PMID:16549640 PMID:17010805 PMID:18554203 PMID:19279339 PMID:19302745 PMID:19358943 PMID:19863551 PMID:19880068 PMID:19955750 PMID:20031617 PMID:20152563 PMID:20400443 PMID:20525856 PMID:20857253 PMID:20864495 PMID:21606390 PMID:21606396 PMID:21636032 PMID:23810883 PMID:23812740 PMID:24585727 PMID:25087486 PMID:25351510 PMID:25525159 PMID:26264440 PMID:26676851 PMID:27335691 PMID:27532257 PMID:28177452 PMID:28253841 PMID:28518168
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802557C>G , CM000674.2:g.32802557C>G GRCh38
NC_000012.11:g.32955491C>G , CM000674.1:g.32955491C>G GRCh37
NC_000012.10:g.32846758C>G NCBI36
NG_009000.1:g.99290G>C , LRG_398:g.99290G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.517-1G>C
ENST00000700557.2:n.106-1G>C
ENST00000700559.2:c.2014-1G>C ENSP00000515065.2:n.2014-1G>C
ENST00000546498.2:n.701-1G>C
ENST00000549461.2:n.553-1G>C
ENST00000700555.1:c.445-1G>C ENSP00000515062.1:n.445-1G>C
ENST00000700556.1:c.485-1G>C
ENST00000700557.1:c.25-1G>C ENSP00000515064.1:n.25-1G>C
ENST00000700558.1:n.228-1G>C
ENST00000700559.1:c.1229-1G>C
ENST00000700560.1:n.1229-1G>C
ENST00000700561.1:n.1355-1G>C
ENST00000070846.11:c.2146-1G>C ENSP00000070846.6:n.2146-1G>C
ENST00000340811.9:c.2014-1G>C MANE Select ENSP00000342800.5:n.2014-1G>C
ENST00000070846.10:c.2146-1G>C ENSP00000070846.6:n.2146-1G>C
ENST00000340811.8:c.2014-1G>C ENSP00000342800.4:n.2014-1G>C
ENST00000549461.1:n.460-1G>C
ENST00000613243.1:c.2146-1G>C ENSP00000478295.1:n.2146-1G>C
NM_001005242.2:c.2014-1G>C NP_001005242.2:n.2014-1G>C
NM_004572.3:c.2146-1G>C , LRG_398t1:c.2146-1G>C NP_004563.2:n.2146-1G>C
NM_001005242.3:c.2014-1G>C MANE Select NP_001005242.2:n.2014-1G>C
NM_004572.4:c.2146-1G>C NP_004563.2:n.2146-1G>C
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