Canonical Allele Identifier: CA479174808

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955416A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802482A>T , CM000674.2:g.32802482A>T	GRCh38
NC_000012.11:g.32955416A>T , CM000674.1:g.32955416A>T	GRCh37
NC_000012.10:g.32846683A>T	NCBI36
NG_009000.1:g.99365T>A , LRG_398:g.99365T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.591T>A
ENST00000700557.2:n.180T>A
ENST00000700559.2:c.2088T>A	ENSP00000515065.2:p.Val696=
ENST00000546498.2:n.775T>A
ENST00000549461.2:n.627T>A
ENST00000700555.1:c.519T>A	ENSP00000515062.1:p.Val173=
ENST00000700556.1:c.559T>A
ENST00000700557.1:c.99T>A	ENSP00000515064.1:p.Val33=
ENST00000700558.1:n.302T>A
ENST00000700559.1:c.1303T>A
ENST00000700560.1:n.1303T>A
ENST00000700561.1:n.1429T>A
ENST00000070846.11:c.2220T>A	ENSP00000070846.6:p.Val740=
ENST00000340811.9:c.2088T>A MANE Select	ENSP00000342800.5:p.Val696=
ENST00000070846.10:c.2220T>A	ENSP00000070846.6:p.Val740=
ENST00000340811.8:c.2088T>A	ENSP00000342800.4:p.Val696=
ENST00000549461.1:n.534T>A
ENST00000613243.1:c.2220T>A	ENSP00000478295.1:p.Val740=
NM_001005242.2:c.2088T>A	NP_001005242.2:p.Val696=
NM_004572.3:c.2220T>A , LRG_398t1:c.2220T>A	NP_004563.2:p.Val740=
NM_001005242.3:c.2088T>A MANE Select	NP_001005242.2:p.Val696=
NM_004572.4:c.2220T>A	NP_004563.2:p.Val740=