Canonical Allele Identifier: CA2685602375
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150948341-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948343del , CM000669.2:g.150948343del GRCh38
NC_000007.13:g.150645431del , CM000669.1:g.150645431del GRCh37
NC_000007.12:g.150276364del NCBI36
NG_008916.1:g.34585del , LRG_288:g.34585del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3525+102del
ENST00000262186.10:c.2692+102del MANE Select ENSP00000262186.5:n.2692+102del
ENST00000330883.9:c.1672+102del ENSP00000328531.4:n.1672+102del
ENST00000262186.9:c.2692+102del ENSP00000262186.5:n.2692+102del
ENST00000330883.8:c.1672+102del ENSP00000328531.4:n.1672+102del
NM_000238.3:c.2692+102del , LRG_288t1:c.2692+102del NP_000229.1:n.2692+102del
NM_172057.2:c.1672+102del , LRG_288t3:c.1672+102del NP_742054.1:n.1672+102del
XM_011516185.1:c.2392+102del XP_011514487.1:n.2392+102del
XM_011516186.1:c.2692+102del XP_011514488.1:n.2692+102del
XM_011516185.2:c.2392+102del XP_011514487.1:n.2392+102del
XM_011516186.3:c.2692+102del XP_011514488.1:n.2692+102del
XM_017012195.1:c.2542+102del XP_016867684.1:n.2542+102del
XM_017012196.1:c.2515+102del XP_016867685.1:n.2515+102del
NM_000238.4:c.2692+102del MANE Select NP_000229.1:n.2692+102del
NM_172057.3:c.1672+102del NP_742054.1:n.1672+102del
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