Canonical Allele Identifier: CA2839075493

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958362del , CM000669.2:g.150958362del	GRCh38
NC_000007.13:g.150655450del , CM000669.1:g.150655450del	GRCh37
NC_000007.12:g.150286383del	NCBI36
NG_008916.1:g.24567del , LRG_288:g.24567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1448del
ENST00000262186.10:c.615del MANE Select	ENSP00000262186.5:p.Ser206AlafsTer10
ENST00000262186.9:c.615del	ENSP00000262186.5:p.Ser206AlafsTer10
ENST00000430723.4:c.267del	ENSP00000387657.4:p.Ser90AlafsTer10
ENST00000532957.5:n.838del
NM_000238.3:c.615del , LRG_288t1:c.615del	NP_000229.1:p.Ser206AlafsTer10
NM_172056.2:c.615del , LRG_288t2:c.615del	NP_742053.1:p.Ser206AlafsTer10
XM_011516185.1:c.315del	XP_011514487.1:p.Ser106AlafsTer10
XM_011516186.1:c.615del	XP_011514488.1:p.Ser206AlafsTer10
XM_011516185.2:c.315del	XP_011514487.1:p.Ser106AlafsTer10
XM_011516186.3:c.615del	XP_011514488.1:p.Ser206AlafsTer10
XM_017012195.1:c.465del	XP_016867684.1:p.Ser156AlafsTer10
XM_017012196.1:c.438del	XP_016867685.1:p.Ser147AlafsTer10
NM_000238.4:c.615del MANE Select	NP_000229.1:p.Ser206AlafsTer10