Canonical Allele Identifier: CA2778426204

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974644_150974646dup , CM000669.2:g.150974644_150974646dup	GRCh38
NC_000007.13:g.150671732_150671734dup , CM000669.1:g.150671732_150671734dup	GRCh37
NC_000007.12:g.150302665_150302667dup	NCBI36
NG_008916.1:g.8282_8284dup , LRG_288:g.8282_8284dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+66_307+68dup MANE Select	ENSP00000262186.5:n.307+66_307+68dup
ENST00000262186.9:c.307+66_307+68dup	ENSP00000262186.5:n.307+66_307+68dup
ENST00000430723.4:c.130+66_130+68dup	ENSP00000387657.4:n.130+66_130+68dup
ENST00000532957.5:n.530+66_530+68dup
NM_000238.3:c.307+66_307+68dup , LRG_288t1:c.307+66_307+68dup	NP_000229.1:n.307+66_307+68dup
NM_172056.2:c.307+66_307+68dup , LRG_288t2:c.307+66_307+68dup	NP_742053.1:n.307+66_307+68dup
XM_011516186.1:c.307+66_307+68dup	XP_011514488.1:n.307+66_307+68dup
XM_011516186.3:c.307+66_307+68dup	XP_011514488.1:n.307+66_307+68dup
XM_017012196.1:c.130+66_130+68dup	XP_016867685.1:n.130+66_130+68dup
NM_000238.4:c.307+66_307+68dup MANE Select	NP_000229.1:n.307+66_307+68dup