Canonical Allele Identifier: CA2778425840
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950486_150950487insTCTCCTTTATA , CM000669.2:g.150950486_150950487insTCTCCTTTATA GRCh38
NC_000007.13:g.150647574_150647575insTCTCCTTTATA , CM000669.1:g.150647574_150647575insTCTCCTTTATA GRCh37
NC_000007.12:g.150278507_150278508insTCTCCTTTATA NCBI36
NG_008916.1:g.32440_32441insTATAAAGGAGA , LRG_288:g.32440_32441insTATAAAGGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1444-67_1444-66insTATAAAGGAGA
ENST00000684241.1:n.2979-67_2979-66insTATAAAGGAGA
ENST00000262186.10:c.2146-67_2146-66insTATAAAGGAGA MANE Select ENSP00000262186.5:n.2146-67_2146-66insTATAAAGGAGA
ENST00000330883.9:c.1126-67_1126-66insTATAAAGGAGA ENSP00000328531.4:n.1126-67_1126-66insTATAAAGGAGA
ENST00000262186.9:c.2146-67_2146-66insTATAAAGGAGA ENSP00000262186.5:n.2146-67_2146-66insTATAAAGGAGA
ENST00000330883.8:c.1126-67_1126-66insTATAAAGGAGA ENSP00000328531.4:n.1126-67_1126-66insTATAAAGGAGA
ENST00000430723.4:c.1798-67_1798-66insTATAAAGGAGA ENSP00000387657.4:n.1798-67_1798-66insTATAAAGGAGA
ENST00000461280.1:n.1433-67_1433-66insTATAAAGGAGA
ENST00000473610.5:n.1778-67_1778-66insTATAAAGGAGA
ENST00000532957.5:n.2369-67_2369-66insTATAAAGGAGA
NM_000238.3:c.2146-67_2146-66insTATAAAGGAGA , LRG_288t1:c.2146-67_2146-66insTATAAAGGAGA NP_000229.1:n.2146-67_2146-66insTATAAAGGAGA
NM_001204798.1:c.1126-67_1126-66insTATAAAGGAGA NP_001191727.1:n.1126-67_1126-66insTATAAAGGAGA
NM_172056.2:c.2146-67_2146-66insTATAAAGGAGA , LRG_288t2:c.2146-67_2146-66insTATAAAGGAGA NP_742053.1:n.2146-67_2146-66insTATAAAGGAGA
NM_172057.2:c.1126-67_1126-66insTATAAAGGAGA , LRG_288t3:c.1126-67_1126-66insTATAAAGGAGA NP_742054.1:n.1126-67_1126-66insTATAAAGGAGA
XM_011516185.1:c.1846-67_1846-66insTATAAAGGAGA XP_011514487.1:n.1846-67_1846-66insTATAAAGGAGA
XM_011516186.1:c.2146-67_2146-66insTATAAAGGAGA XP_011514488.1:n.2146-67_2146-66insTATAAAGGAGA
XM_011516185.2:c.1846-67_1846-66insTATAAAGGAGA XP_011514487.1:n.1846-67_1846-66insTATAAAGGAGA
XM_011516186.3:c.2146-67_2146-66insTATAAAGGAGA XP_011514488.1:n.2146-67_2146-66insTATAAAGGAGA
XM_017012195.1:c.1996-67_1996-66insTATAAAGGAGA XP_016867684.1:n.1996-67_1996-66insTATAAAGGAGA
XM_017012196.1:c.1969-67_1969-66insTATAAAGGAGA XP_016867685.1:n.1969-67_1969-66insTATAAAGGAGA
NM_000238.4:c.2146-67_2146-66insTATAAAGGAGA MANE Select NP_000229.1:n.2146-67_2146-66insTATAAAGGAGA
NM_001204798.2:c.1126-67_1126-66insTATAAAGGAGA NP_001191727.1:n.1126-67_1126-66insTATAAAGGAGA
NM_172057.3:c.1126-67_1126-66insTATAAAGGAGA NP_742054.1:n.1126-67_1126-66insTATAAAGGAGA