Canonical Allele Identifier: CA2695208814

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948476del , CM000669.2:g.150948476del	GRCh38
NC_000007.13:g.150645564del , CM000669.1:g.150645564del	GRCh37
NC_000007.12:g.150276497del	NCBI36
NG_008916.1:g.34451del , LRG_288:g.34451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3493del
ENST00000262186.10:c.2660del MANE Select	ENSP00000262186.5:p.Arg887ProfsTer?
ENST00000330883.9:c.1640del	ENSP00000328531.4:p.Arg547ProfsTer?
ENST00000262186.9:c.2660del	ENSP00000262186.5:p.Arg887ProfsTer?
ENST00000330883.8:c.1640del	ENSP00000328531.4:p.Arg547ProfsTer?
NM_000238.3:c.2660del , LRG_288t1:c.2660del	NP_000229.1:p.Arg887ProfsTer?
NM_172057.2:c.1640del , LRG_288t3:c.1640del	NP_742054.1:p.Arg547ProfsTer?
XM_011516185.1:c.2360del	XP_011514487.1:p.Arg787ProfsTer?
XM_011516186.1:c.2660del	XP_011514488.1:p.Arg887ProfsTer?
XM_011516185.2:c.2360del	XP_011514487.1:p.Arg787ProfsTer?
XM_011516186.3:c.2660del	XP_011514488.1:p.Arg887ProfsTer?
XM_017012195.1:c.2510del	XP_016867684.1:p.Arg837ProfsTer?
XM_017012196.1:c.2483del	XP_016867685.1:p.Arg828ProfsTer?
NM_000238.4:c.2660del MANE Select	NP_000229.1:p.Arg887ProfsTer?
NM_172057.3:c.1640del	NP_742054.1:p.Arg547ProfsTer?