Canonical Allele Identifier: CA2778425357
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948425_150948426insCACCCCCCCCCCCCCCCCACCCCCCAG , CM000669.2:g.150948425_150948426insCACCCCCCCCCCCCCCCCACCCCCCAG GRCh38
NC_000007.13:g.150645513_150645514insCACCCCCCCCCCCCCCCCACCCCCCAG , CM000669.1:g.150645513_150645514insCACCCCCCCCCCCCCCCCACCCCCCAG GRCh37
NC_000007.12:g.150276446_150276447insCACCCCCCCCCCCCCCCCACCCCCCAG NCBI36
NG_008916.1:g.34501_34502insCTGGGGGGTGGGGGGGGGGGGGGGGTG , LRG_288:g.34501_34502insCTGGGGGGTGGGGGGGGGGGGGGGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+18_3525+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG
ENST00000262186.10:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG MANE Select ENSP00000262186.5:n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGG...
ENST00000330883.9:c.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG ENSP00000328531.4:n.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGG...
ENST00000262186.9:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG ENSP00000262186.5:n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGG...
ENST00000330883.8:c.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG ENSP00000328531.4:n.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGG...
NM_000238.3:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG , LRG_288t1:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG NP_000229.1:n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG
NM_172057.2:c.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG , LRG_288t3:c.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG NP_742054.1:n.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG
XM_011516185.1:c.2392+18_2392+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG XP_011514487.1:n.2392+18_2392+19insCTGGGGGGTGGGGGGGGGGGGGGGGT...
XM_011516186.1:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG XP_011514488.1:n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGT...
XM_011516185.2:c.2392+18_2392+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG XP_011514487.1:n.2392+18_2392+19insCTGGGGGGTGGGGGGGGGGGGGGGGT...
XM_011516186.3:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG XP_011514488.1:n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGT...
XM_017012195.1:c.2542+18_2542+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG XP_016867684.1:n.2542+18_2542+19insCTGGGGGGTGGGGGGGGGGGGGGGGT...
XM_017012196.1:c.2515+18_2515+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG XP_016867685.1:n.2515+18_2515+19insCTGGGGGGTGGGGGGGGGGGGGGGGT...
NM_000238.4:c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG MANE Select NP_000229.1:n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG
NM_172057.3:c.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG NP_742054.1:n.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG