Canonical Allele Identifier: CA169081624
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs34632840

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958733del , CM000669.2:g.150958733del GRCh38
NC_000007.13:g.150655821del , CM000669.1:g.150655821del GRCh37
NC_000007.12:g.150286754del NCBI36
NG_008916.1:g.24194del , LRG_288:g.24194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-231del
ENST00000262186.10:c.473-231del MANE Select ENSP00000262186.5:n.473-231del
ENST00000262186.9:c.473-231del ENSP00000262186.5:n.473-231del
ENST00000430723.4:c.235-341del ENSP00000387657.4:n.235-341del
ENST00000532957.5:n.696-231del
NM_000238.3:c.473-231del , LRG_288t1:c.473-231del NP_000229.1:n.473-231del
NM_172056.2:c.473-231del , LRG_288t2:c.473-231del NP_742053.1:n.473-231del
XM_011516185.1:c.173-231del XP_011514487.1:n.173-231del
XM_011516186.1:c.473-231del XP_011514488.1:n.473-231del
XM_011516185.2:c.173-231del XP_011514487.1:n.173-231del
XM_011516186.3:c.473-231del XP_011514488.1:n.473-231del
XM_017012195.1:c.323-231del XP_016867684.1:n.323-231del
XM_017012196.1:c.296-231del XP_016867685.1:n.296-231del
NM_000238.4:c.473-231del MANE Select NP_000229.1:n.473-231del