Canonical Allele Identifier: CA1752428179
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947218_150947219delinsGA , CM000669.2:g.150947218_150947219delinsGA GRCh38
NC_000007.13:g.150644306_150644307delinsGA , CM000669.1:g.150644306_150644307delinsGA GRCh37
NC_000007.12:g.150275239_150275240delinsGA NCBI36
NG_008916.1:g.35708_35709delinsTC , LRG_288:g.35708_35709delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3985+109_3985+110delinsTC
ENST00000262186.10:c.3152+109_3152+110delinsTC MANE Select ENSP00000262186.5:n.3152+109_3152+110deli...
ENST00000330883.9:c.2132+109_2132+110delinsTC ENSP00000328531.4:n.2132+109_2132+110deli...
ENST00000262186.9:c.3152+109_3152+110delinsTC ENSP00000262186.5:n.3152+109_3152+110deli...
ENST00000330883.8:c.2132+109_2132+110delinsTC ENSP00000328531.4:n.2132+109_2132+110deli...
NM_000238.3:c.3152+109_3152+110delinsTC , LRG_288t1:c.3152+109_3152+110delinsTC NP_000229.1:n.3152+109_3152+110delinsTC
NM_172057.2:c.2132+109_2132+110delinsTC , LRG_288t3:c.2132+109_2132+110delinsTC NP_742054.1:n.2132+109_2132+110delinsTC
XM_011516185.1:c.2852+109_2852+110delinsTC XP_011514487.1:n.2852+109_2852+110delinsT...
XM_011516185.2:c.2852+109_2852+110delinsTC XP_011514487.1:n.2852+109_2852+110delinsT...
XM_017012195.1:c.3002+109_3002+110delinsTC XP_016867684.1:n.3002+109_3002+110delinsT...
XM_017012196.1:c.2975+109_2975+110delinsTC XP_016867685.1:n.2975+109_2975+110delinsT...
NM_000238.4:c.3152+109_3152+110delinsTC MANE Select NP_000229.1:n.3152+109_3152+110delinsTC
NM_172057.3:c.2132+109_2132+110delinsTC NP_742054.1:n.2132+109_2132+110delinsTC