Canonical Allele Identifier: CA034650

Gene: PKP2

Linked Data

• ClinVar Variation Id: 496258
• ClinVar RCV Id: RCV000586307 ; RCV000622084 ; RCV000772484 ; RCV001084523 ; RCV003905509
• dbSNP Id: rs376231586
• ExAC: 12:32949236 C / G
• gnomAD v2: 12-32949236-C-G
• gnomAD v3: 12-32796302-C-G
• gnomAD v4: 12-32796302-C-G
• MyVariant Identifiers: chr12:g.32949236C>G (hg19) ; chr12:g.32796302C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796302C>G , CM000674.2:g.32796302C>G	GRCh38
NC_000012.11:g.32949236C>G , CM000674.1:g.32949236C>G	GRCh37
NC_000012.10:g.32840503C>G	NCBI36
NG_009000.1:g.105545G>C , LRG_398:g.105545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-4G>C
ENST00000700557.2:n.260-4G>C
ENST00000700559.2:c.2168-3571G>C	ENSP00000515065.2:n.2168-3571G>C
ENST00000546498.2:n.855-4G>C
ENST00000549461.2:n.660-4G>C
ENST00000700555.1:c.599-4G>C	ENSP00000515062.1:n.599-4G>C
ENST00000700556.1:c.639-4G>C
ENST00000700557.1:c.179-4G>C	ENSP00000515064.1:n.179-4G>C
ENST00000700558.1:n.382-4G>C
ENST00000700559.1:c.1383-3571G>C
ENST00000700560.1:n.1383-4G>C
ENST00000700561.1:n.1509-4G>C
ENST00000070846.11:c.2300-4G>C	ENSP00000070846.6:n.2300-4G>C
ENST00000340811.9:c.2168-4G>C MANE Select	ENSP00000342800.5:n.2168-4G>C
ENST00000070846.10:c.2300-4G>C	ENSP00000070846.6:n.2300-4G>C
ENST00000340811.8:c.2168-4G>C	ENSP00000342800.4:n.2168-4G>C
ENST00000613243.1:c.2300-4G>C	ENSP00000478295.1:n.2300-4G>C
NM_001005242.2:c.2168-4G>C	NP_001005242.2:n.2168-4G>C
NM_004572.3:c.2300-4G>C , LRG_398t1:c.2300-4G>C	NP_004563.2:n.2300-4G>C
NM_001005242.3:c.2168-4G>C MANE Select	NP_001005242.2:n.2168-4G>C
NM_004572.4:c.2300-4G>C	NP_004563.2:n.2300-4G>C