Canonical Allele Identifier: CA1752432818

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949988_150949990delinsACG , CM000669.2:g.150949988_150949990delinsACG	GRCh38
NC_000007.13:g.150647076_150647078delinsACG , CM000669.1:g.150647076_150647078delinsACG	GRCh37
NC_000007.12:g.150278009_150278011delinsACG	NCBI36
NG_008916.1:g.32937_32939delinsCGT , LRG_288:g.32937_32939delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1874_1876delinsCGT
ENST00000684241.1:n.3231+178_3231+180delinsCGT
ENST00000262186.10:c.2398+178_2398+180delinsCGT MANE Select	ENSP00000262186.5:n.2398+178_2398+180delinsCGT
ENST00000330883.9:c.1378+178_1378+180delinsCGT	ENSP00000328531.4:n.1378+178_1378+180delinsCGT
ENST00000262186.9:c.2398+178_2398+180delinsCGT	ENSP00000262186.5:n.2398+178_2398+180delinsCGT
ENST00000330883.8:c.1378+178_1378+180delinsCGT	ENSP00000328531.4:n.1378+178_1378+180delinsCGT
ENST00000430723.4:c.2228_2230delinsCGT	ENSP00000387657.4:p.Thr743=
ENST00000461280.1:n.1863_1865delinsCGT
ENST00000473610.5:n.2208_2210delinsCGT
ENST00000532957.5:n.2799_2801delinsCGT
NM_000238.3:c.2398+178_2398+180delinsCGT , LRG_288t1:c.2398+178_2398+180delinsCGT	NP_000229.1:n.2398+178_2398+180delinsCGT
NM_001204798.1:c.1556_1558delinsCGT	NP_001191727.1:p.Thr519=
NM_172056.2:c.2576_2578delinsCGT , LRG_288t2:c.2576_2578delinsCGT	NP_742053.1:p.Thr859=
NM_172057.2:c.1378+178_1378+180delinsCGT , LRG_288t3:c.1378+178_1378+180delinsCGT	NP_742054.1:n.1378+178_1378+180delinsCGT
XM_011516185.1:c.2098+178_2098+180delinsCGT	XP_011514487.1:n.2098+178_2098+180delinsCGT
XM_011516186.1:c.2398+178_2398+180delinsCGT	XP_011514488.1:n.2398+178_2398+180delinsCGT
XM_011516185.2:c.2098+178_2098+180delinsCGT	XP_011514487.1:n.2098+178_2098+180delinsCGT
XM_011516186.3:c.2398+178_2398+180delinsCGT	XP_011514488.1:n.2398+178_2398+180delinsCGT
XM_017012195.1:c.2248+178_2248+180delinsCGT	XP_016867684.1:n.2248+178_2248+180delinsCGT
XM_017012196.1:c.2221+178_2221+180delinsCGT	XP_016867685.1:n.2221+178_2221+180delinsCGT
NM_000238.4:c.2398+178_2398+180delinsCGT MANE Select	NP_000229.1:n.2398+178_2398+180delinsCGT
NM_001204798.2:c.1556_1558delinsCGT	NP_001191727.1:p.Thr519=
NM_172057.3:c.1378+178_1378+180delinsCGT	NP_742054.1:n.1378+178_1378+180delinsCGT