Canonical Allele Identifier: CA835214359
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1441617272

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975073_150975074insC , CM000669.2:g.150975073_150975074insC GRCh38
NC_000007.13:g.150672161_150672162insC , CM000669.1:g.150672161_150672162insC GRCh37
NC_000007.12:g.150303094_150303095insC NCBI36
NG_008916.1:g.7853_7854insG , LRG_288:g.7853_7854insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-133_77-132insG MANE Select ENSP00000262186.5:n.77-133_77-132insG
ENST00000262186.9:c.77-133_77-132insG ENSP00000262186.5:n.77-133_77-132insG
ENST00000430723.4:c.-101-133_-101-132insG ENSP00000387657.4:n.-101-133_-101-132insG
ENST00000532957.5:n.300-133_300-132insG
NM_000238.3:c.77-133_77-132insG , LRG_288t1:c.77-133_77-132insG NP_000229.1:n.77-133_77-132insG
NM_172056.2:c.77-133_77-132insG , LRG_288t2:c.77-133_77-132insG NP_742053.1:n.77-133_77-132insG
XM_011516186.1:c.77-133_77-132insG XP_011514488.1:n.77-133_77-132insG
XM_011516186.3:c.77-133_77-132insG XP_011514488.1:n.77-133_77-132insG
NM_000238.4:c.77-133_77-132insG MANE Select NP_000229.1:n.77-133_77-132insG