Canonical Allele Identifier: CA2831039228

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947854del , CM000669.2:g.150947854del	GRCh38
NC_000007.13:g.150644942del , CM000669.1:g.150644942del	GRCh37
NC_000007.12:g.150275875del	NCBI36
NG_008916.1:g.35073del , LRG_288:g.35073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3550del
ENST00000262186.10:c.2717del MANE Select	ENSP00000262186.5:p.Ser906TrpfsTer?
ENST00000330883.9:c.1697del	ENSP00000328531.4:p.Ser566TrpfsTer?
ENST00000262186.9:c.2717del	ENSP00000262186.5:p.Ser906TrpfsTer?
ENST00000330883.8:c.1697del	ENSP00000328531.4:p.Ser566TrpfsTer?
NM_000238.3:c.2717del , LRG_288t1:c.2717del	NP_000229.1:p.Ser906TrpfsTer?
NM_172057.2:c.1697del , LRG_288t3:c.1697del	NP_742054.1:p.Ser566TrpfsTer?
XM_011516185.1:c.2417del	XP_011514487.1:p.Ser806TrpfsTer?
XM_011516186.1:c.2693-163del	XP_011514488.1:n.2693-163del
XM_011516185.2:c.2417del	XP_011514487.1:p.Ser806TrpfsTer?
XM_011516186.3:c.2693-163del	XP_011514488.1:n.2693-163del
XM_017012195.1:c.2567del	XP_016867684.1:p.Ser856TrpfsTer?
XM_017012196.1:c.2540del	XP_016867685.1:p.Ser847TrpfsTer?
NM_000238.4:c.2717del MANE Select	NP_000229.1:p.Ser906TrpfsTer?
NM_172057.3:c.1697del	NP_742054.1:p.Ser566TrpfsTer?