Canonical Allele Identifier: CA2685602240
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947970_150947971del , CM000669.2:g.150947970_150947971del GRCh38
NC_000007.13:g.150645058_150645059del , CM000669.1:g.150645058_150645059del GRCh37
NC_000007.12:g.150275991_150275992del NCBI36
NG_008916.1:g.34961_34962del , LRG_288:g.34961_34962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-88_3526-87del
ENST00000262186.10:c.2693-88_2693-87del MANE Select ENSP00000262186.5:n.2693-88_2693-87del
ENST00000330883.9:c.1673-88_1673-87del ENSP00000328531.4:n.1673-88_1673-87del
ENST00000262186.9:c.2693-88_2693-87del ENSP00000262186.5:n.2693-88_2693-87del
ENST00000330883.8:c.1673-88_1673-87del ENSP00000328531.4:n.1673-88_1673-87del
NM_000238.3:c.2693-88_2693-87del , LRG_288t1:c.2693-88_2693-87del NP_000229.1:n.2693-88_2693-87del
NM_172057.2:c.1673-88_1673-87del , LRG_288t3:c.1673-88_1673-87del NP_742054.1:n.1673-88_1673-87del
XM_011516185.1:c.2393-88_2393-87del XP_011514487.1:n.2393-88_2393-87del
XM_011516186.1:c.2693-275_2693-274del XP_011514488.1:n.2693-275_2693-274del
XM_011516185.2:c.2393-88_2393-87del XP_011514487.1:n.2393-88_2393-87del
XM_011516186.3:c.2693-275_2693-274del XP_011514488.1:n.2693-275_2693-274del
XM_017012195.1:c.2543-88_2543-87del XP_016867684.1:n.2543-88_2543-87del
XM_017012196.1:c.2516-88_2516-87del XP_016867685.1:n.2516-88_2516-87del
NM_000238.4:c.2693-88_2693-87del MANE Select NP_000229.1:n.2693-88_2693-87del
NM_172057.3:c.1673-88_1673-87del NP_742054.1:n.1673-88_1673-87del