Canonical Allele Identifier: CA384359293

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955358G>C (hg19) ; chr12:g.32802424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802424G>C , CM000674.2:g.32802424G>C	GRCh38
NC_000012.11:g.32955358G>C , CM000674.1:g.32955358G>C	GRCh37
NC_000012.10:g.32846625G>C	NCBI36
NG_009000.1:g.99423C>G , LRG_398:g.99423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.649C>G
ENST00000700557.2:n.238C>G
ENST00000700559.2:c.2146C>G	ENSP00000515065.2:p.Leu716Val
ENST00000546498.2:n.833C>G
ENST00000549461.2:n.659+26C>G
ENST00000700555.1:c.577C>G	ENSP00000515062.1:p.Leu193Val
ENST00000700556.1:c.617C>G
ENST00000700557.1:c.157C>G	ENSP00000515064.1:p.Leu53Val
ENST00000700558.1:n.360C>G
ENST00000700559.1:c.1361C>G
ENST00000700560.1:n.1361C>G
ENST00000700561.1:n.1487C>G
ENST00000070846.11:c.2278C>G	ENSP00000070846.6:p.Leu760Val
ENST00000340811.9:c.2146C>G MANE Select	ENSP00000342800.5:p.Leu716Val
ENST00000070846.10:c.2278C>G	ENSP00000070846.6:p.Leu760Val
ENST00000340811.8:c.2146C>G	ENSP00000342800.4:p.Leu716Val
ENST00000613243.1:c.2278C>G	ENSP00000478295.1:p.Leu760Val
NM_001005242.2:c.2146C>G	NP_001005242.2:p.Leu716Val
NM_004572.3:c.2278C>G , LRG_398t1:c.2278C>G	NP_004563.2:p.Leu760Val
NM_001005242.3:c.2146C>G MANE Select	NP_001005242.2:p.Leu716Val
NM_004572.4:c.2278C>G	NP_004563.2:p.Leu760Val