Canonical Allele Identifier: CA1752430815
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948148C= , CM000669.2:g.150948148C= GRCh38
NC_000007.13:g.150645236C= , CM000669.1:g.150645236C= GRCh37
NC_000007.12:g.150276169C= NCBI36
NG_008916.1:g.34779G= , LRG_288:g.34779G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-270G=
ENST00000262186.10:c.2693-270G= MANE Select ENSP00000262186.5:n.2693-270G=
ENST00000330883.9:c.1673-270G= ENSP00000328531.4:n.1673-270G=
ENST00000262186.9:c.2693-270G= ENSP00000262186.5:n.2693-270G=
ENST00000330883.8:c.1673-270G= ENSP00000328531.4:n.1673-270G=
NM_000238.3:c.2693-270G= , LRG_288t1:c.2693-270G= NP_000229.1:n.2693-270G=
NM_172057.2:c.1673-270G= , LRG_288t3:c.1673-270G= NP_742054.1:n.1673-270G=
XM_011516185.1:c.2393-270G= XP_011514487.1:n.2393-270G=
XM_011516186.1:c.2692+296G= XP_011514488.1:n.2692+296G=
XM_011516185.2:c.2393-270G= XP_011514487.1:n.2393-270G=
XM_011516186.3:c.2692+296G= XP_011514488.1:n.2692+296G=
XM_017012195.1:c.2543-270G= XP_016867684.1:n.2543-270G=
XM_017012196.1:c.2516-270G= XP_016867685.1:n.2516-270G=
NM_000238.4:c.2693-270G= MANE Select NP_000229.1:n.2693-270G=
NM_172057.3:c.1673-270G= NP_742054.1:n.1673-270G=