Canonical Allele Identifier: CA2685600467
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150946821-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150946823del , CM000669.2:g.150946823del GRCh38
NC_000007.13:g.150643911del , CM000669.1:g.150643911del GRCh37
NC_000007.12:g.150274844del NCBI36
NG_008916.1:g.36105del , LRG_288:g.36105del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4163+55del
ENST00000262186.10:c.3330+55del MANE Select ENSP00000262186.5:n.3330+55del
ENST00000330883.9:c.2310+55del ENSP00000328531.4:n.2310+55del
ENST00000262186.9:c.3330+55del ENSP00000262186.5:n.3330+55del
ENST00000330883.8:c.2310+55del ENSP00000328531.4:n.2310+55del
NM_000238.3:c.3330+55del , LRG_288t1:c.3330+55del NP_000229.1:n.3330+55del
NM_172057.2:c.2310+55del , LRG_288t3:c.2310+55del NP_742054.1:n.2310+55del
XM_011516185.1:c.3030+55del XP_011514487.1:n.3030+55del
XM_011516185.2:c.3030+55del XP_011514487.1:n.3030+55del
XM_017012195.1:c.3180+55del XP_016867684.1:n.3180+55del
XM_017012196.1:c.3153+55del XP_016867685.1:n.3153+55del
NM_000238.4:c.3330+55del MANE Select NP_000229.1:n.3330+55del
NM_172057.3:c.2310+55del NP_742054.1:n.2310+55del
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