Canonical Allele Identifier: CA384361694

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821406G>A , CM000674.2:g.32821406G>A	GRCh38
NC_000012.11:g.32974340G>A , CM000674.1:g.32974340G>A	GRCh37
NC_000012.10:g.32865607G>A	NCBI36
NG_009000.1:g.80441C>T , LRG_398:g.80441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.466C>T
ENST00000700559.2:c.1963C>T	ENSP00000515065.2:p.Gln655Ter
ENST00000700563.2:c.1963C>T	ENSP00000515066.2:p.Gln655Ter
ENST00000546498.2:n.650C>T
ENST00000549461.2:n.502C>T
ENST00000700555.1:c.394C>T	ENSP00000515062.1:p.Gln132Ter
ENST00000700556.1:c.434C>T
ENST00000700558.1:n.177C>T
ENST00000700559.1:c.1178C>T
ENST00000700560.1:n.1178C>T
ENST00000700561.1:n.1304C>T
ENST00000700562.1:n.501C>T
ENST00000700563.1:c.1917C>T
ENST00000700564.1:n.1967C>T
ENST00000070846.11:c.2095C>T	ENSP00000070846.6:p.Gln699Ter
ENST00000340811.9:c.1963C>T MANE Select	ENSP00000342800.5:p.Gln655Ter
ENST00000070846.10:c.2095C>T	ENSP00000070846.6:p.Gln699Ter
ENST00000340811.8:c.1963C>T	ENSP00000342800.4:p.Gln655Ter
ENST00000549461.1:n.409C>T
ENST00000552612.5:n.384C>T
ENST00000613243.1:c.2095C>T	ENSP00000478295.1:p.Gln699Ter
NM_001005242.2:c.1963C>T	NP_001005242.2:p.Gln655Ter
NM_004572.3:c.2095C>T , LRG_398t1:c.2095C>T	NP_004563.2:p.Gln699Ter
NM_001005242.3:c.1963C>T MANE Select	NP_001005242.2:p.Gln655Ter
NM_004572.4:c.2095C>T	NP_004563.2:p.Gln699Ter