Canonical Allele Identifier: CA658797050

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 523697
• ClinVar RCV Id: RCV000627138
• dbSNP Id: rs1554427936
• MyVariant Identifiers: chr7:g.150655519_150655526dup (hg19) ; chr7:g.150958431_150958438dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958431_150958438dup , CM000669.2:g.150958431_150958438dup	GRCh38
NC_000007.13:g.150655519_150655526dup , CM000669.1:g.150655519_150655526dup	GRCh37
NC_000007.12:g.150286452_150286459dup	NCBI36
NG_008916.1:g.24489_24496dup , LRG_288:g.24489_24496dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1370_1377dup
ENST00000262186.10:c.537_544dup MANE Select	ENSP00000262186.5:p.Ser182TrpfsTer22
ENST00000262186.9:c.537_544dup	ENSP00000262186.5:p.Ser182TrpfsTer22
ENST00000430723.4:c.235-46_235-39dup	ENSP00000387657.4:n.235-46_235-39dup
ENST00000532957.5:n.760_767dup
NM_000238.3:c.537_544dup , LRG_288t1:c.537_544dup	NP_000229.1:p.Ser182TrpfsTer22
NM_172056.2:c.537_544dup , LRG_288t2:c.537_544dup	NP_742053.1:p.Ser182TrpfsTer22
XM_011516185.1:c.237_244dup	XP_011514487.1:p.Ser82TrpfsTer22
XM_011516186.1:c.537_544dup	XP_011514488.1:p.Ser182TrpfsTer22
XM_011516185.2:c.237_244dup	XP_011514487.1:p.Ser82TrpfsTer22
XM_011516186.3:c.537_544dup	XP_011514488.1:p.Ser182TrpfsTer22
XM_017012195.1:c.387_394dup	XP_016867684.1:p.Ser132TrpfsTer22
XM_017012196.1:c.360_367dup	XP_016867685.1:p.Ser123TrpfsTer22
NM_000238.4:c.537_544dup MANE Select	NP_000229.1:p.Ser182TrpfsTer22