Canonical Allele Identifier: CA2695208633

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958202_150958217del , CM000669.2:g.150958202_150958217del	GRCh38
NC_000007.13:g.150655290_150655305del , CM000669.1:g.150655290_150655305del	GRCh37
NC_000007.12:g.150286223_150286238del	NCBI36
NG_008916.1:g.24712_24727del , LRG_288:g.24712_24727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1593_1608del
ENST00000262186.10:c.760_775del MANE Select	ENSP00000262186.5:p.His254ThrfsTer?
ENST00000262186.9:c.760_775del	ENSP00000262186.5:p.His254ThrfsTer?
ENST00000430723.4:c.412_427del	ENSP00000387657.4:p.His138ThrfsTer?
ENST00000532957.5:n.983_998del
NM_000238.3:c.760_775del , LRG_288t1:c.760_775del	NP_000229.1:p.His254ThrfsTer?
NM_172056.2:c.760_775del , LRG_288t2:c.760_775del	NP_742053.1:p.His254ThrfsTer?
XM_011516185.1:c.460_475del	XP_011514487.1:p.His154ThrfsTer?
XM_011516186.1:c.760_775del	XP_011514488.1:p.His254ThrfsTer?
XM_011516185.2:c.460_475del	XP_011514487.1:p.His154ThrfsTer?
XM_011516186.3:c.760_775del	XP_011514488.1:p.His254ThrfsTer?
XM_017012195.1:c.610_625del	XP_016867684.1:p.His204ThrfsTer?
XM_017012196.1:c.583_598del	XP_016867685.1:p.His195ThrfsTer?
NM_000238.4:c.760_775del MANE Select	NP_000229.1:p.His254ThrfsTer?