Canonical Allele Identifier: CA2778426115
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958546_150958556del , CM000669.2:g.150958546_150958556del GRCh38
NC_000007.13:g.150655634_150655644del , CM000669.1:g.150655634_150655644del GRCh37
NC_000007.12:g.150286567_150286577del NCBI36
NG_008916.1:g.24372_24382del , LRG_288:g.24372_24382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-53_1306-43del
ENST00000262186.10:c.473-53_473-43del MANE Select ENSP00000262186.5:n.473-53_473-43del
ENST00000262186.9:c.473-53_473-43del ENSP00000262186.5:n.473-53_473-43del
ENST00000430723.4:c.235-163_235-153del ENSP00000387657.4:n.235-163_235-153del
ENST00000532957.5:n.696-53_696-43del
NM_000238.3:c.473-53_473-43del , LRG_288t1:c.473-53_473-43del NP_000229.1:n.473-53_473-43del
NM_172056.2:c.473-53_473-43del , LRG_288t2:c.473-53_473-43del NP_742053.1:n.473-53_473-43del
XM_011516185.1:c.173-53_173-43del XP_011514487.1:n.173-53_173-43del
XM_011516186.1:c.473-53_473-43del XP_011514488.1:n.473-53_473-43del
XM_011516185.2:c.173-53_173-43del XP_011514487.1:n.173-53_173-43del
XM_011516186.3:c.473-53_473-43del XP_011514488.1:n.473-53_473-43del
XM_017012195.1:c.323-53_323-43del XP_016867684.1:n.323-53_323-43del
XM_017012196.1:c.296-53_296-43del XP_016867685.1:n.296-53_296-43del
NM_000238.4:c.473-53_473-43del MANE Select NP_000229.1:n.473-53_473-43del