Canonical Allele Identifier: CA1752417297
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957732T= , CM000669.2:g.150957732T= GRCh38
NC_000007.13:g.150654820T= , CM000669.1:g.150654820T= GRCh37
NC_000007.12:g.150285753T= NCBI36
NG_008916.1:g.25195A= , LRG_288:g.25195A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1750-230A=
ENST00000262186.10:c.917-230A= MANE Select ENSP00000262186.5:n.917-230A=
ENST00000262186.9:c.917-230A= ENSP00000262186.5:n.917-230A=
ENST00000430723.4:c.569-230A= ENSP00000387657.4:n.569-230A=
ENST00000532957.5:n.1140-230A=
NM_000238.3:c.917-230A= , LRG_288t1:c.917-230A= NP_000229.1:n.917-230A=
NM_172056.2:c.917-230A= , LRG_288t2:c.917-230A= NP_742053.1:n.917-230A=
XM_011516185.1:c.617-230A= XP_011514487.1:n.617-230A=
XM_011516186.1:c.917-230A= XP_011514488.1:n.917-230A=
XM_011516185.2:c.617-230A= XP_011514487.1:n.617-230A=
XM_011516186.3:c.917-230A= XP_011514488.1:n.917-230A=
XM_017012195.1:c.767-230A= XP_016867684.1:n.767-230A=
XM_017012196.1:c.740-230A= XP_016867685.1:n.740-230A=
NM_000238.4:c.917-230A= MANE Select NP_000229.1:n.917-230A=