Canonical Allele Identifier: CA1752461630

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974680_150974681delinsTG , CM000669.2:g.150974680_150974681delinsTG	GRCh38
NC_000007.13:g.150671768_150671769delinsTG , CM000669.1:g.150671768_150671769delinsTG	GRCh37
NC_000007.12:g.150302701_150302702delinsTG	NCBI36
NG_008916.1:g.8246_8247delinsCA , LRG_288:g.8246_8247delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+30_307+31delinsCA MANE Select	ENSP00000262186.5:n.307+30_307+31delinsCA...
ENST00000262186.9:c.307+30_307+31delinsCA	ENSP00000262186.5:n.307+30_307+31delinsCA...
ENST00000430723.4:c.130+30_130+31delinsCA	ENSP00000387657.4:n.130+30_130+31delinsCA...
ENST00000532957.5:n.530+30_530+31delinsCA
NM_000238.3:c.307+30_307+31delinsCA , LRG_288t1:c.307+30_307+31delinsCA	NP_000229.1:n.307+30_307+31delinsCA
NM_172056.2:c.307+30_307+31delinsCA , LRG_288t2:c.307+30_307+31delinsCA	NP_742053.1:n.307+30_307+31delinsCA
XM_011516186.1:c.307+30_307+31delinsCA	XP_011514488.1:n.307+30_307+31delinsCA
XM_011516186.3:c.307+30_307+31delinsCA	XP_011514488.1:n.307+30_307+31delinsCA
XM_017012196.1:c.130+30_130+31delinsCA	XP_016867685.1:n.130+30_130+31delinsCA
NM_000238.4:c.307+30_307+31delinsCA MANE Select	NP_000229.1:n.307+30_307+31delinsCA