Canonical Allele Identifier: CA2778425129
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947949_150947972del , CM000669.2:g.150947949_150947972del GRCh38
NC_000007.13:g.150645037_150645060del , CM000669.1:g.150645037_150645060del GRCh37
NC_000007.12:g.150275970_150275993del NCBI36
NG_008916.1:g.34959_34982del , LRG_288:g.34959_34982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-90_3526-67del
ENST00000262186.10:c.2693-90_2693-67del MANE Select ENSP00000262186.5:n.2693-90_2693-67del
ENST00000330883.9:c.1673-90_1673-67del ENSP00000328531.4:n.1673-90_1673-67del
ENST00000262186.9:c.2693-90_2693-67del ENSP00000262186.5:n.2693-90_2693-67del
ENST00000330883.8:c.1673-90_1673-67del ENSP00000328531.4:n.1673-90_1673-67del
NM_000238.3:c.2693-90_2693-67del , LRG_288t1:c.2693-90_2693-67del NP_000229.1:n.2693-90_2693-67del
NM_172057.2:c.1673-90_1673-67del , LRG_288t3:c.1673-90_1673-67del NP_742054.1:n.1673-90_1673-67del
XM_011516185.1:c.2393-90_2393-67del XP_011514487.1:n.2393-90_2393-67del
XM_011516186.1:c.2693-277_2693-254del XP_011514488.1:n.2693-277_2693-254del
XM_011516185.2:c.2393-90_2393-67del XP_011514487.1:n.2393-90_2393-67del
XM_011516186.3:c.2693-277_2693-254del XP_011514488.1:n.2693-277_2693-254del
XM_017012195.1:c.2543-90_2543-67del XP_016867684.1:n.2543-90_2543-67del
XM_017012196.1:c.2516-90_2516-67del XP_016867685.1:n.2516-90_2516-67del
NM_000238.4:c.2693-90_2693-67del MANE Select NP_000229.1:n.2693-90_2693-67del
NM_172057.3:c.1673-90_1673-67del NP_742054.1:n.1673-90_1673-67del