Canonical Allele Identifier: CA2685602684
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948436_150948437insCCCCCCCCCC , CM000669.2:g.150948436_150948437insCCCCCCCCCC GRCh38
NC_000007.13:g.150645524_150645525insCCCCCCCCCC , CM000669.1:g.150645524_150645525insCCCCCCCCCC GRCh37
NC_000007.12:g.150276457_150276458insCCCCCCCCCC NCBI36
NG_008916.1:g.34495_34496insGGGGGGGGGG , LRG_288:g.34495_34496insGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+12_3525+13insGGGGGGGGGG
ENST00000262186.10:c.2692+12_2692+13insGGGGGGGGGG MANE Select ENSP00000262186.5:n.2692+12_2692+13insGGGGGGGGGG
ENST00000330883.9:c.1672+12_1672+13insGGGGGGGGGG ENSP00000328531.4:n.1672+12_1672+13insGGGGGGGGGG
ENST00000262186.9:c.2692+12_2692+13insGGGGGGGGGG ENSP00000262186.5:n.2692+12_2692+13insGGGGGGGGGG
ENST00000330883.8:c.1672+12_1672+13insGGGGGGGGGG ENSP00000328531.4:n.1672+12_1672+13insGGGGGGGGGG
NM_000238.3:c.2692+12_2692+13insGGGGGGGGGG , LRG_288t1:c.2692+12_2692+13insGGGGGGGGGG NP_000229.1:n.2692+12_2692+13insGGGGGGGGGG
NM_172057.2:c.1672+12_1672+13insGGGGGGGGGG , LRG_288t3:c.1672+12_1672+13insGGGGGGGGGG NP_742054.1:n.1672+12_1672+13insGGGGGGGGGG
XM_011516185.1:c.2392+12_2392+13insGGGGGGGGGG XP_011514487.1:n.2392+12_2392+13insGGGGGGGGGG
XM_011516186.1:c.2692+12_2692+13insGGGGGGGGGG XP_011514488.1:n.2692+12_2692+13insGGGGGGGGGG
XM_011516185.2:c.2392+12_2392+13insGGGGGGGGGG XP_011514487.1:n.2392+12_2392+13insGGGGGGGGGG
XM_011516186.3:c.2692+12_2692+13insGGGGGGGGGG XP_011514488.1:n.2692+12_2692+13insGGGGGGGGGG
XM_017012195.1:c.2542+12_2542+13insGGGGGGGGGG XP_016867684.1:n.2542+12_2542+13insGGGGGGGGGG
XM_017012196.1:c.2515+12_2515+13insGGGGGGGGGG XP_016867685.1:n.2515+12_2515+13insGGGGGGGGGG
NM_000238.4:c.2692+12_2692+13insGGGGGGGGGG MANE Select NP_000229.1:n.2692+12_2692+13insGGGGGGGGGG
NM_172057.3:c.1672+12_1672+13insGGGGGGGGGG NP_742054.1:n.1672+12_1672+13insGGGGGGGGGG