Canonical Allele Identifier: CA2778425885

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958207del , CM000669.2:g.150958207del	GRCh38
NC_000007.13:g.150655295del , CM000669.1:g.150655295del	GRCh37
NC_000007.12:g.150286228del	NCBI36
NG_008916.1:g.24720del , LRG_288:g.24720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1601del
ENST00000262186.10:c.768del MANE Select	ENSP00000262186.5:p.Asn257ThrfsTer?
ENST00000262186.9:c.768del	ENSP00000262186.5:p.Asn257ThrfsTer?
ENST00000430723.4:c.420del	ENSP00000387657.4:p.Asn141ThrfsTer?
ENST00000532957.5:n.991del
NM_000238.3:c.768del , LRG_288t1:c.768del	NP_000229.1:p.Asn257ThrfsTer?
NM_172056.2:c.768del , LRG_288t2:c.768del	NP_742053.1:p.Asn257ThrfsTer?
XM_011516185.1:c.468del	XP_011514487.1:p.Asn157ThrfsTer?
XM_011516186.1:c.768del	XP_011514488.1:p.Asn257ThrfsTer?
XM_011516185.2:c.468del	XP_011514487.1:p.Asn157ThrfsTer?
XM_011516186.3:c.768del	XP_011514488.1:p.Asn257ThrfsTer?
XM_017012195.1:c.618del	XP_016867684.1:p.Asn207ThrfsTer?
XM_017012196.1:c.591del	XP_016867685.1:p.Asn198ThrfsTer?
NM_000238.4:c.768del MANE Select	NP_000229.1:p.Asn257ThrfsTer?