Canonical Allele Identifier: CA2685603648

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950152-GCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950155_150950158del , CM000669.2:g.150950155_150950158del	GRCh38
NC_000007.13:g.150647243_150647246del , CM000669.1:g.150647243_150647246del	GRCh37
NC_000007.12:g.150278176_150278179del	NCBI36
NG_008916.1:g.32771_32774del , LRG_288:g.32771_32774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1708_1711del
ENST00000684241.1:n.3231+12_3231+15del
ENST00000262186.10:c.2398+12_2398+15del MANE Select	ENSP00000262186.5:n.2398+12_2398+15del
ENST00000330883.9:c.1378+12_1378+15del	ENSP00000328531.4:n.1378+12_1378+15del
ENST00000262186.9:c.2398+12_2398+15del	ENSP00000262186.5:n.2398+12_2398+15del
ENST00000330883.8:c.1378+12_1378+15del	ENSP00000328531.4:n.1378+12_1378+15del
ENST00000430723.4:c.2062_2065del	ENSP00000387657.4:p.Gly688ArgfsTer18
ENST00000461280.1:n.1697_1700del
ENST00000473610.5:n.2042_2045del
ENST00000532957.5:n.2633_2636del
NM_000238.3:c.2398+12_2398+15del , LRG_288t1:c.2398+12_2398+15del	NP_000229.1:n.2398+12_2398+15del
NM_001204798.1:c.1390_1393del	NP_001191727.1:p.Gly464ArgfsTer18
NM_172056.2:c.2410_2413del , LRG_288t2:c.2410_2413del	NP_742053.1:p.Gly804ArgfsTer18
NM_172057.2:c.1378+12_1378+15del , LRG_288t3:c.1378+12_1378+15del	NP_742054.1:n.1378+12_1378+15del
XM_011516185.1:c.2098+12_2098+15del	XP_011514487.1:n.2098+12_2098+15del
XM_011516186.1:c.2398+12_2398+15del	XP_011514488.1:n.2398+12_2398+15del
XM_011516185.2:c.2098+12_2098+15del	XP_011514487.1:n.2098+12_2098+15del
XM_011516186.3:c.2398+12_2398+15del	XP_011514488.1:n.2398+12_2398+15del
XM_017012195.1:c.2248+12_2248+15del	XP_016867684.1:n.2248+12_2248+15del
XM_017012196.1:c.2221+12_2221+15del	XP_016867685.1:n.2221+12_2221+15del
NM_000238.4:c.2398+12_2398+15del MANE Select	NP_000229.1:n.2398+12_2398+15del
NM_001204798.2:c.1390_1393del	NP_001191727.1:p.Gly464ArgfsTer18
NM_172057.3:c.1378+12_1378+15del	NP_742054.1:n.1378+12_1378+15del