Canonical Allele Identifier: CA2778425125
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947946_150947948del , CM000669.2:g.150947946_150947948del GRCh38
NC_000007.13:g.150645034_150645036del , CM000669.1:g.150645034_150645036del GRCh37
NC_000007.12:g.150275967_150275969del NCBI36
NG_008916.1:g.34984_34986del , LRG_288:g.34984_34986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-65_3526-63del
ENST00000262186.10:c.2693-65_2693-63del MANE Select ENSP00000262186.5:n.2693-65_2693-63del
ENST00000330883.9:c.1673-65_1673-63del ENSP00000328531.4:n.1673-65_1673-63del
ENST00000262186.9:c.2693-65_2693-63del ENSP00000262186.5:n.2693-65_2693-63del
ENST00000330883.8:c.1673-65_1673-63del ENSP00000328531.4:n.1673-65_1673-63del
NM_000238.3:c.2693-65_2693-63del , LRG_288t1:c.2693-65_2693-63del NP_000229.1:n.2693-65_2693-63del
NM_172057.2:c.1673-65_1673-63del , LRG_288t3:c.1673-65_1673-63del NP_742054.1:n.1673-65_1673-63del
XM_011516185.1:c.2393-65_2393-63del XP_011514487.1:n.2393-65_2393-63del
XM_011516186.1:c.2693-252_2693-250del XP_011514488.1:n.2693-252_2693-250del
XM_011516185.2:c.2393-65_2393-63del XP_011514487.1:n.2393-65_2393-63del
XM_011516186.3:c.2693-252_2693-250del XP_011514488.1:n.2693-252_2693-250del
XM_017012195.1:c.2543-65_2543-63del XP_016867684.1:n.2543-65_2543-63del
XM_017012196.1:c.2516-65_2516-63del XP_016867685.1:n.2516-65_2516-63del
NM_000238.4:c.2693-65_2693-63del MANE Select NP_000229.1:n.2693-65_2693-63del
NM_172057.3:c.1673-65_1673-63del NP_742054.1:n.1673-65_1673-63del