Canonical Allele Identifier: CA2685600563

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948594-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948595_150948596insTG , CM000669.2:g.150948595_150948596insTG	GRCh38
NC_000007.13:g.150645683_150645684insTG , CM000669.1:g.150645683_150645684insTG	GRCh37
NC_000007.12:g.150276616_150276617insTG	NCBI36
NG_008916.1:g.34332_34333insAC , LRG_288:g.34332_34333insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-52_3426-51insAC
ENST00000262186.10:c.2593-52_2593-51insAC MANE Select	ENSP00000262186.5:n.2593-52_2593-51insAC
ENST00000330883.9:c.1573-52_1573-51insAC	ENSP00000328531.4:n.1573-52_1573-51insAC
ENST00000262186.9:c.2593-52_2593-51insAC	ENSP00000262186.5:n.2593-52_2593-51insAC
ENST00000330883.8:c.1573-52_1573-51insAC	ENSP00000328531.4:n.1573-52_1573-51insAC
NM_000238.3:c.2593-52_2593-51insAC , LRG_288t1:c.2593-52_2593-51insAC	NP_000229.1:n.2593-52_2593-51insAC
NM_172057.2:c.1573-52_1573-51insAC , LRG_288t3:c.1573-52_1573-51insAC	NP_742054.1:n.1573-52_1573-51insAC
XM_011516185.1:c.2293-52_2293-51insAC	XP_011514487.1:n.2293-52_2293-51insAC
XM_011516186.1:c.2593-52_2593-51insAC	XP_011514488.1:n.2593-52_2593-51insAC
XM_011516185.2:c.2293-52_2293-51insAC	XP_011514487.1:n.2293-52_2293-51insAC
XM_011516186.3:c.2593-52_2593-51insAC	XP_011514488.1:n.2593-52_2593-51insAC
XM_017012195.1:c.2443-52_2443-51insAC	XP_016867684.1:n.2443-52_2443-51insAC
XM_017012196.1:c.2416-52_2416-51insAC	XP_016867685.1:n.2416-52_2416-51insAC
NM_000238.4:c.2593-52_2593-51insAC MANE Select	NP_000229.1:n.2593-52_2593-51insAC
NM_172057.3:c.1573-52_1573-51insAC	NP_742054.1:n.1573-52_1573-51insAC