Canonical Allele Identifier: CA2685607528

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958157-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958157_150958158insTT , CM000669.2:g.150958157_150958158insTT	GRCh38
NC_000007.13:g.150655245_150655246insTT , CM000669.1:g.150655245_150655246insTT	GRCh37
NC_000007.12:g.150286178_150286179insTT	NCBI36
NG_008916.1:g.24769_24770insAA , LRG_288:g.24769_24770insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1650_1651insAA
ENST00000262186.10:c.817_818insAA MANE Select	ENSP00000262186.5:p.Arg273GlnfsTer?
ENST00000262186.9:c.817_818insAA	ENSP00000262186.5:p.Arg273GlnfsTer?
ENST00000430723.4:c.469_470insAA	ENSP00000387657.4:p.Arg157GlnfsTer?
ENST00000532957.5:n.1040_1041insAA
NM_000238.3:c.817_818insAA , LRG_288t1:c.817_818insAA	NP_000229.1:p.Arg273GlnfsTer?
NM_172056.2:c.817_818insAA , LRG_288t2:c.817_818insAA	NP_742053.1:p.Arg273GlnfsTer?
XM_011516185.1:c.517_518insAA	XP_011514487.1:p.Arg173GlnfsTer?
XM_011516186.1:c.817_818insAA	XP_011514488.1:p.Arg273GlnfsTer?
XM_011516185.2:c.517_518insAA	XP_011514487.1:p.Arg173GlnfsTer?
XM_011516186.3:c.817_818insAA	XP_011514488.1:p.Arg273GlnfsTer?
XM_017012195.1:c.667_668insAA	XP_016867684.1:p.Arg223GlnfsTer?
XM_017012196.1:c.640_641insAA	XP_016867685.1:p.Arg214GlnfsTer?
NM_000238.4:c.817_818insAA MANE Select	NP_000229.1:p.Arg273GlnfsTer?