Canonical Allele Identifier: CA384360051

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32955471T>A (hg19) ; chr12:g.32802537T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802537T>A , CM000674.2:g.32802537T>A	GRCh38
NC_000012.11:g.32955471T>A , CM000674.1:g.32955471T>A	GRCh37
NC_000012.10:g.32846738T>A	NCBI36
NG_009000.1:g.99310A>T , LRG_398:g.99310A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.536A>T
ENST00000700557.2:n.125A>T
ENST00000700559.2:c.2033A>T	ENSP00000515065.2:p.Gln678Leu
ENST00000546498.2:n.720A>T
ENST00000549461.2:n.572A>T
ENST00000700555.1:c.464A>T	ENSP00000515062.1:p.Gln155Leu
ENST00000700556.1:c.504A>T
ENST00000700557.1:c.44A>T	ENSP00000515064.1:p.Gln15Leu
ENST00000700558.1:n.247A>T
ENST00000700559.1:c.1248A>T
ENST00000700560.1:n.1248A>T
ENST00000700561.1:n.1374A>T
ENST00000070846.11:c.2165A>T	ENSP00000070846.6:p.Gln722Leu
ENST00000340811.9:c.2033A>T MANE Select	ENSP00000342800.5:p.Gln678Leu
ENST00000070846.10:c.2165A>T	ENSP00000070846.6:p.Gln722Leu
ENST00000340811.8:c.2033A>T	ENSP00000342800.4:p.Gln678Leu
ENST00000549461.1:n.479A>T
ENST00000613243.1:c.2165A>T	ENSP00000478295.1:p.Gln722Leu
NM_001005242.2:c.2033A>T	NP_001005242.2:p.Gln678Leu
NM_004572.3:c.2165A>T , LRG_398t1:c.2165A>T	NP_004563.2:p.Gln722Leu
NM_001005242.3:c.2033A>T MANE Select	NP_001005242.2:p.Gln678Leu
NM_004572.4:c.2165A>T	NP_004563.2:p.Gln722Leu