Canonical Allele Identifier: CA1752461231

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974544_150974545delinsAC , CM000669.2:g.150974544_150974545delinsAC	GRCh38
NC_000007.13:g.150671632_150671633delinsAC , CM000669.1:g.150671632_150671633delinsAC	GRCh37
NC_000007.12:g.150302565_150302566delinsAC	NCBI36
NG_008916.1:g.8382_8383delinsGT , LRG_288:g.8382_8383delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+166_307+167delinsGT MANE Select	ENSP00000262186.5:n.307+166_307+167delinsGT
ENST00000262186.9:c.307+166_307+167delinsGT	ENSP00000262186.5:n.307+166_307+167delinsGT
ENST00000430723.4:c.130+166_130+167delinsGT	ENSP00000387657.4:n.130+166_130+167delinsGT
ENST00000532957.5:n.530+166_530+167delinsGT
NM_000238.3:c.307+166_307+167delinsGT , LRG_288t1:c.307+166_307+167delinsGT	NP_000229.1:n.307+166_307+167delinsGT
NM_172056.2:c.307+166_307+167delinsGT , LRG_288t2:c.307+166_307+167delinsGT	NP_742053.1:n.307+166_307+167delinsGT
XM_011516186.1:c.307+166_307+167delinsGT	XP_011514488.1:n.307+166_307+167delinsGT
XM_011516186.3:c.307+166_307+167delinsGT	XP_011514488.1:n.307+166_307+167delinsGT
XM_017012196.1:c.130+166_130+167delinsGT	XP_016867685.1:n.130+166_130+167delinsGT
NM_000238.4:c.307+166_307+167delinsGT MANE Select	NP_000229.1:n.307+166_307+167delinsGT