Canonical Allele Identifier: CA578701561
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948407_150948408insTCC , CM000669.2:g.150948407_150948408insTCC GRCh38
NC_000007.13:g.150645495_150645496insTCC , CM000669.1:g.150645495_150645496insTCC GRCh37
NC_000007.12:g.150276428_150276429insTCC NCBI36
NG_008916.1:g.34519_34520insGGA , LRG_288:g.34519_34520insGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+36_3525+37insGGA
ENST00000262186.10:c.2692+36_2692+37insGGA MANE Select ENSP00000262186.5:n.2692+36_2692+37insGGA
ENST00000330883.9:c.1672+36_1672+37insGGA ENSP00000328531.4:n.1672+36_1672+37insGGA
ENST00000262186.9:c.2692+36_2692+37insGGA ENSP00000262186.5:n.2692+36_2692+37insGGA
ENST00000330883.8:c.1672+36_1672+37insGGA ENSP00000328531.4:n.1672+36_1672+37insGGA
NM_000238.3:c.2692+36_2692+37insGGA , LRG_288t1:c.2692+36_2692+37insGGA NP_000229.1:n.2692+36_2692+37insGGA
NM_172057.2:c.1672+36_1672+37insGGA , LRG_288t3:c.1672+36_1672+37insGGA NP_742054.1:n.1672+36_1672+37insGGA
XM_011516185.1:c.2392+36_2392+37insGGA XP_011514487.1:n.2392+36_2392+37insGGA
XM_011516186.1:c.2692+36_2692+37insGGA XP_011514488.1:n.2692+36_2692+37insGGA
XM_011516185.2:c.2392+36_2392+37insGGA XP_011514487.1:n.2392+36_2392+37insGGA
XM_011516186.3:c.2692+36_2692+37insGGA XP_011514488.1:n.2692+36_2692+37insGGA
XM_017012195.1:c.2542+36_2542+37insGGA XP_016867684.1:n.2542+36_2542+37insGGA
XM_017012196.1:c.2515+36_2515+37insGGA XP_016867685.1:n.2515+36_2515+37insGGA
NM_000238.4:c.2692+36_2692+37insGGA MANE Select NP_000229.1:n.2692+36_2692+37insGGA
NM_172057.3:c.1672+36_1672+37insGGA NP_742054.1:n.1672+36_1672+37insGGA