Canonical Allele Identifier: CA2579062613

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948481_150948482insA , CM000669.2:g.150948481_150948482insA	GRCh38
NC_000007.13:g.150645569_150645570insA , CM000669.1:g.150645569_150645570insA	GRCh37
NC_000007.12:g.150276502_150276503insA	NCBI36
NG_008916.1:g.34445_34446insT , LRG_288:g.34445_34446insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3487_3488insT
ENST00000262186.10:c.2654_2655insT MANE Select	ENSP00000262186.5:p.Lys886GlnfsTer?
ENST00000330883.9:c.1634_1635insT	ENSP00000328531.4:p.Lys546GlnfsTer?
ENST00000262186.9:c.2654_2655insT	ENSP00000262186.5:p.Lys886GlnfsTer?
ENST00000330883.8:c.1634_1635insT	ENSP00000328531.4:p.Lys546GlnfsTer?
NM_000238.3:c.2654_2655insT , LRG_288t1:c.2654_2655insT	NP_000229.1:p.Lys886GlnfsTer?
NM_172057.2:c.1634_1635insT , LRG_288t3:c.1634_1635insT	NP_742054.1:p.Lys546GlnfsTer?
XM_011516185.1:c.2354_2355insT	XP_011514487.1:p.Lys786GlnfsTer?
XM_011516186.1:c.2654_2655insT	XP_011514488.1:p.Lys886GlnfsTer?
XM_011516185.2:c.2354_2355insT	XP_011514487.1:p.Lys786GlnfsTer?
XM_011516186.3:c.2654_2655insT	XP_011514488.1:p.Lys886GlnfsTer?
XM_017012195.1:c.2504_2505insT	XP_016867684.1:p.Lys836GlnfsTer?
XM_017012196.1:c.2477_2478insT	XP_016867685.1:p.Lys827GlnfsTer?
NM_000238.4:c.2654_2655insT MANE Select	NP_000229.1:p.Lys886GlnfsTer?
NM_172057.3:c.1634_1635insT	NP_742054.1:p.Lys546GlnfsTer?