Canonical Allele Identifier: CA1752420182
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959757_150959758delinsGC , CM000669.2:g.150959757_150959758delinsGC GRCh38
NC_000007.13:g.150656845_150656846delinsGC , CM000669.1:g.150656845_150656846delinsGC GRCh37
NC_000007.12:g.150287778_150287779delinsGC NCBI36
NG_008916.1:g.23169_23170delinsGC , LRG_288:g.23169_23170delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1119_1120delinsGC
ENST00000262186.10:c.308-22_308-21delinsGC MANE Select ENSP00000262186.5:n.308-22_308-21delinsGC
ENST00000262186.9:c.308-22_308-21delinsGC ENSP00000262186.5:n.308-22_308-21delinsGC
ENST00000430723.4:c.131-22_131-21delinsGC ENSP00000387657.4:n.131-22_131-21delinsGC
ENST00000532957.5:n.531-22_531-21delinsGC
NM_000238.3:c.308-22_308-21delinsGC , LRG_288t1:c.308-22_308-21delinsGC NP_000229.1:n.308-22_308-21delinsGC
NM_172056.2:c.308-22_308-21delinsGC , LRG_288t2:c.308-22_308-21delinsGC NP_742053.1:n.308-22_308-21delinsGC
XM_011516185.1:c.8-22_8-21delinsGC XP_011514487.1:n.8-22_8-21delinsGC
XM_011516186.1:c.308-22_308-21delinsGC XP_011514488.1:n.308-22_308-21delinsGC
XM_011516185.2:c.8-22_8-21delinsGC XP_011514487.1:n.8-22_8-21delinsGC
XM_011516186.3:c.308-22_308-21delinsGC XP_011514488.1:n.308-22_308-21delinsGC
XM_017012195.1:c.158-22_158-21delinsGC XP_016867684.1:n.158-22_158-21delinsGC
XM_017012196.1:c.131-22_131-21delinsGC XP_016867685.1:n.131-22_131-21delinsGC
NM_000238.4:c.308-22_308-21delinsGC MANE Select NP_000229.1:n.308-22_308-21delinsGC