Canonical Allele Identifier: CA2685601778

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150949972-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949977_150949979del , CM000669.2:g.150949977_150949979del	GRCh38
NC_000007.13:g.150647065_150647067del , CM000669.1:g.150647065_150647067del	GRCh37
NC_000007.12:g.150277998_150278000del	NCBI36
NG_008916.1:g.32952_32954del , LRG_288:g.32952_32954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1889_1891del
ENST00000684241.1:n.3231+193_3231+195del
ENST00000262186.10:c.2398+193_2398+195del MANE Select	ENSP00000262186.5:n.2398+193_2398+195del
ENST00000330883.9:c.1378+193_1378+195del	ENSP00000328531.4:n.1378+193_1378+195del
ENST00000262186.9:c.2398+193_2398+195del	ENSP00000262186.5:n.2398+193_2398+195del
ENST00000330883.8:c.1378+193_1378+195del	ENSP00000328531.4:n.1378+193_1378+195del
ENST00000430723.4:c.2243_2245del	ENSP00000387657.4:p.Ala748del
ENST00000461280.1:n.1878_1880del
ENST00000473610.5:n.2223_2225del
ENST00000532957.5:n.2814_2816del
NM_000238.3:c.2398+193_2398+195del , LRG_288t1:c.2398+193_2398+195del	NP_000229.1:n.2398+193_2398+195del
NM_001204798.1:c.1571_1573del	NP_001191727.1:p.Ala524del
NM_172056.2:c.2591_2593del , LRG_288t2:c.2591_2593del	NP_742053.1:p.Ala864del
NM_172057.2:c.1378+193_1378+195del , LRG_288t3:c.1378+193_1378+195del	NP_742054.1:n.1378+193_1378+195del
XM_011516185.1:c.2098+193_2098+195del	XP_011514487.1:n.2098+193_2098+195del
XM_011516186.1:c.2398+193_2398+195del	XP_011514488.1:n.2398+193_2398+195del
XM_011516185.2:c.2098+193_2098+195del	XP_011514487.1:n.2098+193_2098+195del
XM_011516186.3:c.2398+193_2398+195del	XP_011514488.1:n.2398+193_2398+195del
XM_017012195.1:c.2248+193_2248+195del	XP_016867684.1:n.2248+193_2248+195del
XM_017012196.1:c.2221+193_2221+195del	XP_016867685.1:n.2221+193_2221+195del
NM_000238.4:c.2398+193_2398+195del MANE Select	NP_000229.1:n.2398+193_2398+195del
NM_001204798.2:c.1571_1573del	NP_001191727.1:p.Ala524del
NM_172057.3:c.1378+193_1378+195del	NP_742054.1:n.1378+193_1378+195del