Canonical Allele Identifier: CA2517089812

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822454_32822455insCTTTTGAAGTGTGTA , CM000674.2:g.32822454_32822455insCTTTTGAAGTGTGTA	GRCh38
NC_000012.11:g.32975388_32975389insCTTTTGAAGTGTGTA , CM000674.1:g.32975388_32975389insCTTTTGAAGTGTGTA	GRCh37
NC_000012.10:g.32866655_32866656insCTTTTGAAGTGTGTA	NCBI36
NG_009000.1:g.79392_79393insTACACACTTCAAAAG , LRG_398:g.79392_79393insTACACACTTCAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.342+21_342+22insTACACACTTCAAAAG
ENST00000700559.2:c.1839+12_1839+13insTACACACTTCAAAAG	ENSP00000515065.2:n.1839+12_1839+13insTACACACTTCAAAAG
ENST00000700563.2:c.1839+12_1839+13insTACACACTTCAAAAG	ENSP00000515066.2:n.1839+12_1839+13insTACACACTTCAAAAG
ENST00000546498.2:n.526+12_526+13insTACACACTTCAAAAG
ENST00000700555.1:c.270+21_270+22insTACACACTTCAAAAG	ENSP00000515062.1:n.270+21_270+22insTACACACTTCAAAAG
ENST00000700556.1:c.310+12_310+13insTACACACTTCAAAAG
ENST00000700559.1:c.1054+12_1054+13insTACACACTTCAAAAG
ENST00000700560.1:n.1054+12_1054+13insTACACACTTCAAAAG
ENST00000700561.1:n.1180+12_1180+13insTACACACTTCAAAAG
ENST00000700563.1:c.1793+12_1793+13insTACACACTTCAAAAG
ENST00000700564.1:n.1843+12_1843+13insTACACACTTCAAAAG
ENST00000070846.11:c.1971+12_1971+13insTACACACTTCAAAAG	ENSP00000070846.6:n.1971+12_1971+13insTACACACTTCAAAAG
ENST00000340811.9:c.1839+12_1839+13insTACACACTTCAAAAG MANE Select	ENSP00000342800.5:n.1839+12_1839+13insTACACACTTCAAAAG
ENST00000070846.10:c.1971+12_1971+13insTACACACTTCAAAAG	ENSP00000070846.6:n.1971+12_1971+13insTACACACTTCAAAAG
ENST00000340811.8:c.1839+12_1839+13insTACACACTTCAAAAG	ENSP00000342800.4:n.1839+12_1839+13insTACACACTTCAAAAG
ENST00000546498.1:n.526+12_526+13insTACACACTTCAAAAG
ENST00000552612.5:n.260+12_260+13insTACACACTTCAAAAG
ENST00000613243.1:c.1971+12_1971+13insTACACACTTCAAAAG	ENSP00000478295.1:n.1971+12_1971+13insTACACACTTCAAAAG
NM_001005242.2:c.1839+12_1839+13insTACACACTTCAAAAG	NP_001005242.2:n.1839+12_1839+13insTACACACTTCAAAAG
NM_004572.3:c.1971+12_1971+13insTACACACTTCAAAAG , LRG_398t1:c.1971+12_1971+13insTACACACTTCAAAAG	NP_004563.2:n.1971+12_1971+13insTACACACTTCAAAAG
NM_001005242.3:c.1839+12_1839+13insTACACACTTCAAAAG MANE Select	NP_001005242.2:n.1839+12_1839+13insTACACACTTCAAAAG
NM_004572.4:c.1971+12_1971+13insTACACACTTCAAAAG	NP_004563.2:n.1971+12_1971+13insTACACACTTCAAAAG