Canonical Allele Identifier: CA2685603557

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950148-GCCCGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950152_150950157del , CM000669.2:g.150950152_150950157del	GRCh38
NC_000007.13:g.150647240_150647245del , CM000669.1:g.150647240_150647245del	GRCh37
NC_000007.12:g.150278173_150278178del	NCBI36
NG_008916.1:g.32773_32778del , LRG_288:g.32773_32778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1710_1715del
ENST00000684241.1:n.3231+14_3231+19del
ENST00000262186.10:c.2398+14_2398+19del MANE Select	ENSP00000262186.5:n.2398+14_2398+19del
ENST00000330883.9:c.1378+14_1378+19del	ENSP00000328531.4:n.1378+14_1378+19del
ENST00000262186.9:c.2398+14_2398+19del	ENSP00000262186.5:n.2398+14_2398+19del
ENST00000330883.8:c.1378+14_1378+19del	ENSP00000328531.4:n.1378+14_1378+19del
ENST00000430723.4:c.2064_2069del	ENSP00000387657.4:p.Ala689_Gly690del
ENST00000461280.1:n.1699_1704del
ENST00000473610.5:n.2044_2049del
ENST00000532957.5:n.2635_2640del
NM_000238.3:c.2398+14_2398+19del , LRG_288t1:c.2398+14_2398+19del	NP_000229.1:n.2398+14_2398+19del
NM_001204798.1:c.1392_1397del	NP_001191727.1:p.Ala465_Gly466del
NM_172056.2:c.2412_2417del , LRG_288t2:c.2412_2417del	NP_742053.1:p.Ala805_Gly806del
NM_172057.2:c.1378+14_1378+19del , LRG_288t3:c.1378+14_1378+19del	NP_742054.1:n.1378+14_1378+19del
XM_011516185.1:c.2098+14_2098+19del	XP_011514487.1:n.2098+14_2098+19del
XM_011516186.1:c.2398+14_2398+19del	XP_011514488.1:n.2398+14_2398+19del
XM_011516185.2:c.2098+14_2098+19del	XP_011514487.1:n.2098+14_2098+19del
XM_011516186.3:c.2398+14_2398+19del	XP_011514488.1:n.2398+14_2398+19del
XM_017012195.1:c.2248+14_2248+19del	XP_016867684.1:n.2248+14_2248+19del
XM_017012196.1:c.2221+14_2221+19del	XP_016867685.1:n.2221+14_2221+19del
NM_000238.4:c.2398+14_2398+19del MANE Select	NP_000229.1:n.2398+14_2398+19del
NM_001204798.2:c.1392_1397del	NP_001191727.1:p.Ala465_Gly466del
NM_172057.3:c.1378+14_1378+19del	NP_742054.1:n.1378+14_1378+19del