Canonical Allele Identifier: CA1752433495

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950279_150950281delinsCAT , CM000669.2:g.150950279_150950281delinsCAT	GRCh38
NC_000007.13:g.150647367_150647369delinsCAT , CM000669.1:g.150647367_150647369delinsCAT	GRCh37
NC_000007.12:g.150278300_150278302delinsCAT	NCBI36
NG_008916.1:g.32646_32648delinsATG , LRG_288:g.32646_32648delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1583_1585delinsATG
ENST00000684241.1:n.3118_3120delinsATG
ENST00000262186.10:c.2285_2287delinsATG MANE Select	ENSP00000262186.5:p.His762=
ENST00000330883.9:c.1265_1267delinsATG	ENSP00000328531.4:p.His422=
ENST00000262186.9:c.2285_2287delinsATG	ENSP00000262186.5:p.His762=
ENST00000330883.8:c.1265_1267delinsATG	ENSP00000328531.4:p.His422=
ENST00000430723.4:c.1937_1939delinsATG	ENSP00000387657.4:p.His646=
ENST00000461280.1:n.1572_1574delinsATG
ENST00000473610.5:n.1917_1919delinsATG
ENST00000532957.5:n.2508_2510delinsATG
NM_000238.3:c.2285_2287delinsATG , LRG_288t1:c.2285_2287delinsATG	NP_000229.1:p.His762=
NM_001204798.1:c.1265_1267delinsATG	NP_001191727.1:p.His422=
NM_172056.2:c.2285_2287delinsATG , LRG_288t2:c.2285_2287delinsATG	NP_742053.1:p.His762=
NM_172057.2:c.1265_1267delinsATG , LRG_288t3:c.1265_1267delinsATG	NP_742054.1:p.His422=
XM_011516185.1:c.1985_1987delinsATG	XP_011514487.1:p.His662=
XM_011516186.1:c.2285_2287delinsATG	XP_011514488.1:p.His762=
XM_011516185.2:c.1985_1987delinsATG	XP_011514487.1:p.His662=
XM_011516186.3:c.2285_2287delinsATG	XP_011514488.1:p.His762=
XM_017012195.1:c.2135_2137delinsATG	XP_016867684.1:p.His712=
XM_017012196.1:c.2108_2110delinsATG	XP_016867685.1:p.His703=
NM_000238.4:c.2285_2287delinsATG MANE Select	NP_000229.1:p.His762=
NM_001204798.2:c.1265_1267delinsATG	NP_001191727.1:p.His422=
NM_172057.3:c.1265_1267delinsATG	NP_742054.1:p.His422=