Canonical Allele Identifier: CA2695208786

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947377_150947378insC , CM000669.2:g.150947377_150947378insC	GRCh38
NC_000007.13:g.150644465_150644466insC , CM000669.1:g.150644465_150644466insC	GRCh37
NC_000007.12:g.150275398_150275399insC	NCBI36
NG_008916.1:g.35549_35550insG , LRG_288:g.35549_35550insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3935_3936insG
ENST00000262186.10:c.3102_3103insG MANE Select	ENSP00000262186.5:p.Arg1035AlafsTer?
ENST00000330883.9:c.2082_2083insG	ENSP00000328531.4:p.Arg695AlafsTer?
ENST00000262186.9:c.3102_3103insG	ENSP00000262186.5:p.Arg1035AlafsTer?
ENST00000330883.8:c.2082_2083insG	ENSP00000328531.4:p.Arg695AlafsTer?
NM_000238.3:c.3102_3103insG , LRG_288t1:c.3102_3103insG	NP_000229.1:p.Arg1035AlafsTer?
NM_172057.2:c.2082_2083insG , LRG_288t3:c.2082_2083insG	NP_742054.1:p.Arg695AlafsTer?
XM_011516185.1:c.2802_2803insG	XP_011514487.1:p.Arg935AlafsTer?
XM_011516185.2:c.2802_2803insG	XP_011514487.1:p.Arg935AlafsTer?
XM_017012195.1:c.2952_2953insG	XP_016867684.1:p.Arg985AlafsTer?
XM_017012196.1:c.2925_2926insG	XP_016867685.1:p.Arg976AlafsTer?
NM_000238.4:c.3102_3103insG MANE Select	NP_000229.1:p.Arg1035AlafsTer?
NM_172057.3:c.2082_2083insG	NP_742054.1:p.Arg695AlafsTer?