Canonical Allele Identifier: CA1752430641
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947957_150947958delinsGC , CM000669.2:g.150947957_150947958delinsGC GRCh38
NC_000007.13:g.150645045_150645046delinsGC , CM000669.1:g.150645045_150645046delinsGC GRCh37
NC_000007.12:g.150275978_150275979delinsGC NCBI36
NG_008916.1:g.34969_34970delinsGC , LRG_288:g.34969_34970delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-80_3526-79delinsGC
ENST00000262186.10:c.2693-80_2693-79delinsGC MANE Select ENSP00000262186.5:n.2693-80_2693-79delinsGC
ENST00000330883.9:c.1673-80_1673-79delinsGC ENSP00000328531.4:n.1673-80_1673-79delinsGC
ENST00000262186.9:c.2693-80_2693-79delinsGC ENSP00000262186.5:n.2693-80_2693-79delinsGC
ENST00000330883.8:c.1673-80_1673-79delinsGC ENSP00000328531.4:n.1673-80_1673-79delinsGC
NM_000238.3:c.2693-80_2693-79delinsGC , LRG_288t1:c.2693-80_2693-79delinsGC NP_000229.1:n.2693-80_2693-79delinsGC
NM_172057.2:c.1673-80_1673-79delinsGC , LRG_288t3:c.1673-80_1673-79delinsGC NP_742054.1:n.1673-80_1673-79delinsGC
XM_011516185.1:c.2393-80_2393-79delinsGC XP_011514487.1:n.2393-80_2393-79delinsGC
XM_011516186.1:c.2693-267_2693-266delinsGC XP_011514488.1:n.2693-267_2693-266delinsGC
XM_011516185.2:c.2393-80_2393-79delinsGC XP_011514487.1:n.2393-80_2393-79delinsGC
XM_011516186.3:c.2693-267_2693-266delinsGC XP_011514488.1:n.2693-267_2693-266delinsGC
XM_017012195.1:c.2543-80_2543-79delinsGC XP_016867684.1:n.2543-80_2543-79delinsGC
XM_017012196.1:c.2516-80_2516-79delinsGC XP_016867685.1:n.2516-80_2516-79delinsGC
NM_000238.4:c.2693-80_2693-79delinsGC MANE Select NP_000229.1:n.2693-80_2693-79delinsGC
NM_172057.3:c.1673-80_1673-79delinsGC NP_742054.1:n.1673-80_1673-79delinsGC