Canonical Allele Identifier: CA2579062524
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947963_150947964del , CM000669.2:g.150947963_150947964del GRCh38
NC_000007.13:g.150645051_150645052del , CM000669.1:g.150645051_150645052del GRCh37
NC_000007.12:g.150275984_150275985del NCBI36
NG_008916.1:g.34964_34965del , LRG_288:g.34964_34965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-85_3526-84del
ENST00000262186.10:c.2693-85_2693-84del MANE Select ENSP00000262186.5:n.2693-85_2693-84del
ENST00000330883.9:c.1673-85_1673-84del ENSP00000328531.4:n.1673-85_1673-84del
ENST00000262186.9:c.2693-85_2693-84del ENSP00000262186.5:n.2693-85_2693-84del
ENST00000330883.8:c.1673-85_1673-84del ENSP00000328531.4:n.1673-85_1673-84del
NM_000238.3:c.2693-85_2693-84del , LRG_288t1:c.2693-85_2693-84del NP_000229.1:n.2693-85_2693-84del
NM_172057.2:c.1673-85_1673-84del , LRG_288t3:c.1673-85_1673-84del NP_742054.1:n.1673-85_1673-84del
XM_011516185.1:c.2393-85_2393-84del XP_011514487.1:n.2393-85_2393-84del
XM_011516186.1:c.2693-272_2693-271del XP_011514488.1:n.2693-272_2693-271del
XM_011516185.2:c.2393-85_2393-84del XP_011514487.1:n.2393-85_2393-84del
XM_011516186.3:c.2693-272_2693-271del XP_011514488.1:n.2693-272_2693-271del
XM_017012195.1:c.2543-85_2543-84del XP_016867684.1:n.2543-85_2543-84del
XM_017012196.1:c.2516-85_2516-84del XP_016867685.1:n.2516-85_2516-84del
NM_000238.4:c.2693-85_2693-84del MANE Select NP_000229.1:n.2693-85_2693-84del
NM_172057.3:c.1673-85_1673-84del NP_742054.1:n.1673-85_1673-84del