Canonical Allele Identifier: CA1139532857

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1698966
• ClinVar RCV Id: RCV002272823
• dbSNP Id: rs2116960827

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951574del , CM000669.2:g.150951574del	GRCh38
NC_000007.13:g.150648662del , CM000669.1:g.150648662del	GRCh37
NC_000007.12:g.150279595del	NCBI36
NG_008916.1:g.31353del , LRG_288:g.31353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1117del
ENST00000684241.1:n.2652del
ENST00000262186.10:c.1819del MANE Select	ENSP00000262186.5:p.Ile607SerfsTer6
ENST00000330883.9:c.799del	ENSP00000328531.4:p.Ile267SerfsTer6
ENST00000262186.9:c.1819del	ENSP00000262186.5:p.Ile607SerfsTer6
ENST00000330883.8:c.799del	ENSP00000328531.4:p.Ile267SerfsTer6
ENST00000430723.4:c.1471del	ENSP00000387657.4:p.Ile491SerfsTer6
ENST00000461280.1:n.1106del
ENST00000473610.5:n.1124del
ENST00000532957.5:n.2042del
NM_000238.3:c.1819del , LRG_288t1:c.1819del	NP_000229.1:p.Ile607SerfsTer6
NM_001204798.1:c.799del	NP_001191727.1:p.Ile267SerfsTer6
NM_172056.2:c.1819del , LRG_288t2:c.1819del	NP_742053.1:p.Ile607SerfsTer6
NM_172057.2:c.799del , LRG_288t3:c.799del	NP_742054.1:p.Ile267SerfsTer6
XM_011516185.1:c.1519del	XP_011514487.1:p.Ile507SerfsTer6
XM_011516186.1:c.1819del	XP_011514488.1:p.Ile607SerfsTer6
XM_011516185.2:c.1519del	XP_011514487.1:p.Ile507SerfsTer6
XM_011516186.3:c.1819del	XP_011514488.1:p.Ile607SerfsTer6
XM_017012195.1:c.1669del	XP_016867684.1:p.Ile557SerfsTer6
XM_017012196.1:c.1642del	XP_016867685.1:p.Ile548SerfsTer6
NM_000238.4:c.1819del MANE Select	NP_000229.1:p.Ile607SerfsTer6
NM_001204798.2:c.799del	NP_001191727.1:p.Ile267SerfsTer6
NM_172057.3:c.799del	NP_742054.1:p.Ile267SerfsTer6