Canonical Allele Identifier: CA2778425513

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948494_150948495insG , CM000669.2:g.150948494_150948495insG	GRCh38
NC_000007.13:g.150645582_150645583insG , CM000669.1:g.150645582_150645583insG	GRCh37
NC_000007.12:g.150276515_150276516insG	NCBI36
NG_008916.1:g.34432_34433insC , LRG_288:g.34432_34433insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3474_3475insC
ENST00000262186.10:c.2641_2642insC MANE Select	ENSP00000262186.5:p.Phe881SerfsTer?
ENST00000330883.9:c.1621_1622insC	ENSP00000328531.4:p.Phe541SerfsTer?
ENST00000262186.9:c.2641_2642insC	ENSP00000262186.5:p.Phe881SerfsTer?
ENST00000330883.8:c.1621_1622insC	ENSP00000328531.4:p.Phe541SerfsTer?
NM_000238.3:c.2641_2642insC , LRG_288t1:c.2641_2642insC	NP_000229.1:p.Phe881SerfsTer?
NM_172057.2:c.1621_1622insC , LRG_288t3:c.1621_1622insC	NP_742054.1:p.Phe541SerfsTer?
XM_011516185.1:c.2341_2342insC	XP_011514487.1:p.Phe781SerfsTer?
XM_011516186.1:c.2641_2642insC	XP_011514488.1:p.Phe881SerfsTer?
XM_011516185.2:c.2341_2342insC	XP_011514487.1:p.Phe781SerfsTer?
XM_011516186.3:c.2641_2642insC	XP_011514488.1:p.Phe881SerfsTer?
XM_017012195.1:c.2491_2492insC	XP_016867684.1:p.Phe831SerfsTer?
XM_017012196.1:c.2464_2465insC	XP_016867685.1:p.Phe822SerfsTer?
NM_000238.4:c.2641_2642insC MANE Select	NP_000229.1:p.Phe881SerfsTer?
NM_172057.3:c.1621_1622insC	NP_742054.1:p.Phe541SerfsTer?