Canonical Allele Identifier: CA1752442195

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975186_150975187delinsTC , CM000669.2:g.150975186_150975187delinsTC	GRCh38
NC_000007.13:g.150672274_150672275delinsTC , CM000669.1:g.150672274_150672275delinsTC	GRCh37
NC_000007.12:g.150303207_150303208delinsTC	NCBI36
NG_008916.1:g.7740_7741delinsGA , LRG_288:g.7740_7741delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-246_77-245delinsGA MANE Select	ENSP00000262186.5:n.77-246_77-245delinsGA
ENST00000262186.9:c.77-246_77-245delinsGA	ENSP00000262186.5:n.77-246_77-245delinsGA
ENST00000430723.4:c.-101-246_-101-245delinsGA	ENSP00000387657.4:n.-101-246_-101-245delinsGA
ENST00000532957.5:n.300-246_300-245delinsGA
NM_000238.3:c.77-246_77-245delinsGA , LRG_288t1:c.77-246_77-245delinsGA	NP_000229.1:n.77-246_77-245delinsGA
NM_172056.2:c.77-246_77-245delinsGA , LRG_288t2:c.77-246_77-245delinsGA	NP_742053.1:n.77-246_77-245delinsGA
XM_011516186.1:c.77-246_77-245delinsGA	XP_011514488.1:n.77-246_77-245delinsGA
XM_011516186.3:c.77-246_77-245delinsGA	XP_011514488.1:n.77-246_77-245delinsGA
NM_000238.4:c.77-246_77-245delinsGA MANE Select	NP_000229.1:n.77-246_77-245delinsGA