Canonical Allele Identifier: CA011839

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45062
• ClinVar RCV Id: RCV000038202 ; RCV000640007 ; RCV000766581 ; RCV001178856 ; RCV003162333 ; RCV003996381
• dbSNP Id: rs397517020
• ExAC: 12:32955363 C / T
• gnomAD v2: 12-32955363-C-T
• gnomAD v3: 12-32802429-C-T
• gnomAD v4: 12-32802429-C-T
• COSMIC: COSM3980129
• MyVariant Identifiers: chr12:g.32955363C>T (hg19) ; chr12:g.32802429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802429C>T , CM000674.2:g.32802429C>T	GRCh38
NC_000012.11:g.32955363C>T , CM000674.1:g.32955363C>T	GRCh37
NC_000012.10:g.32846630C>T	NCBI36
NG_009000.1:g.99418G>A , LRG_398:g.99418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.644G>A
ENST00000700557.2:n.233G>A
ENST00000700559.2:c.2141G>A	ENSP00000515065.2:p.Arg714Gln
ENST00000546498.2:n.828G>A
ENST00000549461.2:n.659+21G>A
ENST00000700555.1:c.572G>A	ENSP00000515062.1:p.Arg191Gln
ENST00000700556.1:c.612G>A
ENST00000700557.1:c.152G>A	ENSP00000515064.1:p.Arg51Gln
ENST00000700558.1:n.355G>A
ENST00000700559.1:c.1356G>A
ENST00000700560.1:n.1356G>A
ENST00000700561.1:n.1482G>A
ENST00000070846.11:c.2273G>A	ENSP00000070846.6:p.Arg758Gln
ENST00000340811.9:c.2141G>A MANE Select	ENSP00000342800.5:p.Arg714Gln
ENST00000070846.10:c.2273G>A	ENSP00000070846.6:p.Arg758Gln
ENST00000340811.8:c.2141G>A	ENSP00000342800.4:p.Arg714Gln
ENST00000613243.1:c.2273G>A	ENSP00000478295.1:p.Arg758Gln
NM_001005242.2:c.2141G>A	NP_001005242.2:p.Arg714Gln
NM_004572.3:c.2273G>A , LRG_398t1:c.2273G>A	NP_004563.2:p.Arg758Gln
NM_001005242.3:c.2141G>A MANE Select	NP_001005242.2:p.Arg714Gln
NM_004572.4:c.2273G>A	NP_004563.2:p.Arg758Gln