Canonical Allele Identifier: CA011805

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202004
• ClinVar RCV Id: RCV000183772 ; RCV001852369 ; RCV002426886
• dbSNP Id: rs794729115
• gnomAD v2: 12-32955423-A-C
• gnomAD v4: 12-32802489-A-C
• MyVariant Identifiers: chr12:g.32955423A>C (hg19) ; chr12:g.32802489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802489A>C , CM000674.2:g.32802489A>C	GRCh38
NC_000012.11:g.32955423A>C , CM000674.1:g.32955423A>C	GRCh37
NC_000012.10:g.32846690A>C	NCBI36
NG_009000.1:g.99358T>G , LRG_398:g.99358T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.584T>G
ENST00000700557.2:n.173T>G
ENST00000700559.2:c.2081T>G	ENSP00000515065.2:p.Leu694Arg
ENST00000546498.2:n.768T>G
ENST00000549461.2:n.620T>G
ENST00000700555.1:c.512T>G	ENSP00000515062.1:p.Leu171Arg
ENST00000700556.1:c.552T>G
ENST00000700557.1:c.92T>G	ENSP00000515064.1:p.Leu31Arg
ENST00000700558.1:n.295T>G
ENST00000700559.1:c.1296T>G
ENST00000700560.1:n.1296T>G
ENST00000700561.1:n.1422T>G
ENST00000070846.11:c.2213T>G	ENSP00000070846.6:p.Leu738Arg
ENST00000340811.9:c.2081T>G MANE Select	ENSP00000342800.5:p.Leu694Arg
ENST00000070846.10:c.2213T>G	ENSP00000070846.6:p.Leu738Arg
ENST00000340811.8:c.2081T>G	ENSP00000342800.4:p.Leu694Arg
ENST00000549461.1:n.527T>G
ENST00000613243.1:c.2213T>G	ENSP00000478295.1:p.Leu738Arg
NM_001005242.2:c.2081T>G	NP_001005242.2:p.Leu694Arg
NM_004572.3:c.2213T>G , LRG_398t1:c.2213T>G	NP_004563.2:p.Leu738Arg
NM_001005242.3:c.2081T>G MANE Select	NP_001005242.2:p.Leu694Arg
NM_004572.4:c.2213T>G	NP_004563.2:p.Leu738Arg