Canonical Allele Identifier: CA169091656
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs959126362

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977481_150977482del , CM000669.2:g.150977481_150977482del GRCh38
NC_000007.13:g.150674569_150674570del , CM000669.1:g.150674569_150674570del GRCh37
NC_000007.12:g.150305502_150305503del NCBI36
NG_008916.1:g.5445_5446del , LRG_288:g.5445_5446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.76+356_76+357del MANE Select ENSP00000262186.5:n.76+356_76+357del
ENST00000262186.9:c.76+356_76+357del ENSP00000262186.5:n.76+356_76+357del
ENST00000430723.4:c.-102+356_-102+357del ENSP00000387657.4:n.-102+356_-102+357del
ENST00000532957.5:n.299+356_299+357del
NM_000238.3:c.76+356_76+357del , LRG_288t1:c.76+356_76+357del NP_000229.1:n.76+356_76+357del
NM_172056.2:c.76+356_76+357del , LRG_288t2:c.76+356_76+357del NP_742053.1:n.76+356_76+357del
XM_011516186.1:c.76+356_76+357del XP_011514488.1:n.76+356_76+357del
XM_011516186.3:c.76+356_76+357del XP_011514488.1:n.76+356_76+357del
NM_000238.4:c.76+356_76+357del MANE Select NP_000229.1:n.76+356_76+357del