Canonical Allele Identifier: CA10637299

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792434A>C , CM000674.2:g.32792434A>C	GRCh38
NC_000012.11:g.32945368A>C , CM000674.1:g.32945368A>C	GRCh37
NC_000012.10:g.32836635A>C	NCBI36
NG_009000.1:g.109413T>G , LRG_398:g.109413T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1007T>G
ENST00000700557.2:n.596T>G
ENST00000700559.2:c.2314T>G	ENSP00000515065.2:p.Leu772Val
ENST00000546498.2:n.1191T>G
ENST00000549461.2:n.996T>G
ENST00000700555.1:c.935T>G	ENSP00000515062.1:p.Leu312Arg
ENST00000700556.1:c.975T>G
ENST00000700557.1:c.515T>G	ENSP00000515064.1:p.Leu172Arg
ENST00000700558.1:n.718T>G
ENST00000700559.1:c.1529T>G
ENST00000700560.1:n.1870T>G
ENST00000070846.11:c.2636T>G	ENSP00000070846.6:p.Leu879Arg
ENST00000340811.9:c.2504T>G MANE Select	ENSP00000342800.5:p.Leu835Arg
ENST00000070846.10:c.2636T>G	ENSP00000070846.6:p.Leu879Arg
ENST00000340811.8:c.2504T>G	ENSP00000342800.4:p.Leu835Arg
ENST00000546769.1:n.291T>G
ENST00000613243.1:c.2634T>G	ENSP00000478295.1:n.2634T>G
NM_001005242.2:c.2504T>G	NP_001005242.2:p.Leu835Arg
NM_004572.3:c.2636T>G , LRG_398t1:c.2636T>G	NP_004563.2:p.Leu879Arg
NM_001005242.3:c.2504T>G MANE Select	NP_001005242.2:p.Leu835Arg
NM_004572.4:c.2636T>G	NP_004563.2:p.Leu879Arg