Canonical Allele Identifier: CA1752430585
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947910G= , CM000669.2:g.150947910G= GRCh38
NC_000007.13:g.150644998G= , CM000669.1:g.150644998G= GRCh37
NC_000007.12:g.150275931G= NCBI36
NG_008916.1:g.35017C= , LRG_288:g.35017C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-32C=
ENST00000262186.10:c.2693-32C= MANE Select ENSP00000262186.5:n.2693-32C=
ENST00000330883.9:c.1673-32C= ENSP00000328531.4:n.1673-32C=
ENST00000262186.9:c.2693-32C= ENSP00000262186.5:n.2693-32C=
ENST00000330883.8:c.1673-32C= ENSP00000328531.4:n.1673-32C=
NM_000238.3:c.2693-32C= , LRG_288t1:c.2693-32C= NP_000229.1:n.2693-32C=
NM_172057.2:c.1673-32C= , LRG_288t3:c.1673-32C= NP_742054.1:n.1673-32C=
XM_011516185.1:c.2393-32C= XP_011514487.1:n.2393-32C=
XM_011516186.1:c.2693-219C= XP_011514488.1:n.2693-219C=
XM_011516185.2:c.2393-32C= XP_011514487.1:n.2393-32C=
XM_011516186.3:c.2693-219C= XP_011514488.1:n.2693-219C=
XM_017012195.1:c.2543-32C= XP_016867684.1:n.2543-32C=
XM_017012196.1:c.2516-32C= XP_016867685.1:n.2516-32C=
NM_000238.4:c.2693-32C= MANE Select NP_000229.1:n.2693-32C=
NM_172057.3:c.1673-32C= NP_742054.1:n.1673-32C=