Canonical Allele Identifier: CA479174841

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955464A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802530A>T , CM000674.2:g.32802530A>T	GRCh38
NC_000012.11:g.32955464A>T , CM000674.1:g.32955464A>T	GRCh37
NC_000012.10:g.32846731A>T	NCBI36
NG_009000.1:g.99317T>A , LRG_398:g.99317T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.543T>A
ENST00000700557.2:n.132T>A
ENST00000700559.2:c.2040T>A	ENSP00000515065.2:p.Val680=
ENST00000546498.2:n.727T>A
ENST00000549461.2:n.579T>A
ENST00000700555.1:c.471T>A	ENSP00000515062.1:p.Val157=
ENST00000700556.1:c.511T>A
ENST00000700557.1:c.51T>A	ENSP00000515064.1:p.Val17=
ENST00000700558.1:n.254T>A
ENST00000700559.1:c.1255T>A
ENST00000700560.1:n.1255T>A
ENST00000700561.1:n.1381T>A
ENST00000070846.11:c.2172T>A	ENSP00000070846.6:p.Val724=
ENST00000340811.9:c.2040T>A MANE Select	ENSP00000342800.5:p.Val680=
ENST00000070846.10:c.2172T>A	ENSP00000070846.6:p.Val724=
ENST00000340811.8:c.2040T>A	ENSP00000342800.4:p.Val680=
ENST00000549461.1:n.486T>A
ENST00000613243.1:c.2172T>A	ENSP00000478295.1:p.Val724=
NM_001005242.2:c.2040T>A	NP_001005242.2:p.Val680=
NM_004572.3:c.2172T>A , LRG_398t1:c.2172T>A	NP_004563.2:p.Val724=
NM_001005242.3:c.2040T>A MANE Select	NP_001005242.2:p.Val680=
NM_004572.4:c.2172T>A	NP_004563.2:p.Val724=