Canonical Allele Identifier: CA2778425825
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950152_150950153insGGGG , CM000669.2:g.150950152_150950153insGGGG GRCh38
NC_000007.13:g.150647240_150647241insGGGG , CM000669.1:g.150647240_150647241insGGGG GRCh37
NC_000007.12:g.150278173_150278174insGGGG NCBI36
NG_008916.1:g.32775_32776insCCCC , LRG_288:g.32775_32776insCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1712_1713insCCCC
ENST00000684241.1:n.3231+16_3231+17insCCCC
ENST00000262186.10:c.2398+16_2398+17insCCCC MANE Select ENSP00000262186.5:n.2398+16_2398+17insCCCC
ENST00000330883.9:c.1378+16_1378+17insCCCC ENSP00000328531.4:n.1378+16_1378+17insCCCC
ENST00000262186.9:c.2398+16_2398+17insCCCC ENSP00000262186.5:n.2398+16_2398+17insCCCC
ENST00000330883.8:c.1378+16_1378+17insCCCC ENSP00000328531.4:n.1378+16_1378+17insCCCC
ENST00000430723.4:c.2066_2067insCCCC ENSP00000387657.4:p.Gly690ProfsTer?
ENST00000461280.1:n.1701_1702insCCCC
ENST00000473610.5:n.2046_2047insCCCC
ENST00000532957.5:n.2637_2638insCCCC
NM_000238.3:c.2398+16_2398+17insCCCC , LRG_288t1:c.2398+16_2398+17insCCCC NP_000229.1:n.2398+16_2398+17insCCCC
NM_001204798.1:c.1394_1395insCCCC NP_001191727.1:p.Gly466ProfsTer?
NM_172056.2:c.2414_2415insCCCC , LRG_288t2:c.2414_2415insCCCC NP_742053.1:p.Gly806ProfsTer?
NM_172057.2:c.1378+16_1378+17insCCCC , LRG_288t3:c.1378+16_1378+17insCCCC NP_742054.1:n.1378+16_1378+17insCCCC
XM_011516185.1:c.2098+16_2098+17insCCCC XP_011514487.1:n.2098+16_2098+17insCCCC
XM_011516186.1:c.2398+16_2398+17insCCCC XP_011514488.1:n.2398+16_2398+17insCCCC
XM_011516185.2:c.2098+16_2098+17insCCCC XP_011514487.1:n.2098+16_2098+17insCCCC
XM_011516186.3:c.2398+16_2398+17insCCCC XP_011514488.1:n.2398+16_2398+17insCCCC
XM_017012195.1:c.2248+16_2248+17insCCCC XP_016867684.1:n.2248+16_2248+17insCCCC
XM_017012196.1:c.2221+16_2221+17insCCCC XP_016867685.1:n.2221+16_2221+17insCCCC
NM_000238.4:c.2398+16_2398+17insCCCC MANE Select NP_000229.1:n.2398+16_2398+17insCCCC
NM_001204798.2:c.1394_1395insCCCC NP_001191727.1:p.Gly466ProfsTer?
NM_172057.3:c.1378+16_1378+17insCCCC NP_742054.1:n.1378+16_1378+17insCCCC