Canonical Allele Identifier: CA835225029

Gene: KCNH2

Linked Data

• dbSNP Id: rs1345455004
• MyVariant Identifiers: chr7:g.150647222_150647223insT (hg19) ; chr7:g.150950134_150950135insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950137dup , CM000669.2:g.150950137dup	GRCh38
NC_000007.13:g.150647225dup , CM000669.1:g.150647225dup	GRCh37
NC_000007.12:g.150278158dup	NCBI36
NG_008916.1:g.32792dup , LRG_288:g.32792dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1729dup
ENST00000684241.1:n.3231+33dup
ENST00000262186.10:c.2398+33dup MANE Select	ENSP00000262186.5:n.2398+33dup
ENST00000330883.9:c.1378+33dup	ENSP00000328531.4:n.1378+33dup
ENST00000262186.9:c.2398+33dup	ENSP00000262186.5:n.2398+33dup
ENST00000330883.8:c.1378+33dup	ENSP00000328531.4:n.1378+33dup
ENST00000430723.4:c.2083dup	ENSP00000387657.4:p.Met695AsnfsTer?
ENST00000461280.1:n.1718dup
ENST00000473610.5:n.2063dup
ENST00000532957.5:n.2654dup
NM_000238.3:c.2398+33dup , LRG_288t1:c.2398+33dup	NP_000229.1:n.2398+33dup
NM_001204798.1:c.1411dup	NP_001191727.1:p.Met471AsnfsTer?
NM_172056.2:c.2431dup , LRG_288t2:c.2431dup	NP_742053.1:p.Met811AsnfsTer?
NM_172057.2:c.1378+33dup , LRG_288t3:c.1378+33dup	NP_742054.1:n.1378+33dup
XM_011516185.1:c.2098+33dup	XP_011514487.1:n.2098+33dup
XM_011516186.1:c.2398+33dup	XP_011514488.1:n.2398+33dup
XM_011516185.2:c.2098+33dup	XP_011514487.1:n.2098+33dup
XM_011516186.3:c.2398+33dup	XP_011514488.1:n.2398+33dup
XM_017012195.1:c.2248+33dup	XP_016867684.1:n.2248+33dup
XM_017012196.1:c.2221+33dup	XP_016867685.1:n.2221+33dup
NM_000238.4:c.2398+33dup MANE Select	NP_000229.1:n.2398+33dup
NM_001204798.2:c.1411dup	NP_001191727.1:p.Met471AsnfsTer?
NM_172057.3:c.1378+33dup	NP_742054.1:n.1378+33dup