Canonical Allele Identifier: CA2695208812

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947875del , CM000669.2:g.150947875del	GRCh38
NC_000007.13:g.150644963del , CM000669.1:g.150644963del	GRCh37
NC_000007.12:g.150275896del	NCBI36
NG_008916.1:g.35052del , LRG_288:g.35052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3529del
ENST00000262186.10:c.2696del MANE Select	ENSP00000262186.5:p.Thr899ArgfsTer?
ENST00000330883.9:c.1676del	ENSP00000328531.4:p.Thr559ArgfsTer?
ENST00000262186.9:c.2696del	ENSP00000262186.5:p.Thr899ArgfsTer?
ENST00000330883.8:c.1676del	ENSP00000328531.4:p.Thr559ArgfsTer?
NM_000238.3:c.2696del , LRG_288t1:c.2696del	NP_000229.1:p.Thr899ArgfsTer?
NM_172057.2:c.1676del , LRG_288t3:c.1676del	NP_742054.1:p.Thr559ArgfsTer?
XM_011516185.1:c.2396del	XP_011514487.1:p.Thr799ArgfsTer?
XM_011516186.1:c.2693-184del	XP_011514488.1:n.2693-184del
XM_011516185.2:c.2396del	XP_011514487.1:p.Thr799ArgfsTer?
XM_011516186.3:c.2693-184del	XP_011514488.1:n.2693-184del
XM_017012195.1:c.2546del	XP_016867684.1:p.Thr849ArgfsTer?
XM_017012196.1:c.2519del	XP_016867685.1:p.Thr840ArgfsTer?
NM_000238.4:c.2696del MANE Select	NP_000229.1:p.Thr899ArgfsTer?
NM_172057.3:c.1676del	NP_742054.1:p.Thr559ArgfsTer?