Canonical Allele Identifier: CA2778425818

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950149_150950150insGGGGGGGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950149_150950150insGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150647237_150647238insGGGGGGGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647237_150647238insGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150278170_150278171insGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.32777_32778insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288:g.32777_32778insCCCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1714_1715insCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+18_3231+19insCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.9:c.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000262186.9:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000262186.5:n.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.8:c.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000430723.4:c.2068_2069insCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000387657.4:p.Gly690AlafsTer?
ENST00000461280.1:n.1703_1704insCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000473610.5:n.2048_2049insCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000532957.5:n.2639_2640insCCCCCCCCCCCCCCCCCCCCCCCCC
NM_000238.3:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC	NP_000229.1:n.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC
NM_001204798.1:c.1396_1397insCCCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Gly466AlafsTer?
NM_172056.2:c.2416_2417insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2416_2417insCCCCCCCCCCCCCCCCCCCCCCCCC	NP_742053.1:p.Gly806AlafsTer?
NM_172057.2:c.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC
XM_011516185.1:c.2098+18_2098+19insCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+18_2098+19insCCCCCCCCCCCCCCCCCCCCCCCCC
XM_011516186.1:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC
XM_011516185.2:c.2098+18_2098+19insCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+18_2098+19insCCCCCCCCCCCCCCCCCCCCCCCCC
XM_011516186.3:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC
XM_017012195.1:c.2248+18_2248+19insCCCCCCCCCCCCCCCCCCCCCCCCC	XP_016867684.1:n.2248+18_2248+19insCCCCCCCCCCCCCCCCCCCCCCCCC
XM_017012196.1:c.2221+18_2221+19insCCCCCCCCCCCCCCCCCCCCCCCCC	XP_016867685.1:n.2221+18_2221+19insCCCCCCCCCCCCCCCCCCCCCCCCC
NM_000238.4:c.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+18_2398+19insCCCCCCCCCCCCCCCCCCCCCCCCC
NM_001204798.2:c.1396_1397insCCCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Gly466AlafsTer?
NM_172057.3:c.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+18_1378+19insCCCCCCCCCCCCCCCCCCCCCCCCC