Canonical Allele Identifier: CA915945559

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 663471
• ClinVar RCV Id: RCV000821345 ; RCV002390696
• dbSNP Id: rs1584883377

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974871_150974872delinsTT , CM000669.2:g.150974871_150974872delinsTT	GRCh38
NC_000007.13:g.150671959_150671960delinsTT , CM000669.1:g.150671959_150671960delinsTT	GRCh37
NC_000007.12:g.150302892_150302893delinsTT	NCBI36
NG_008916.1:g.8055_8056delinsAA , LRG_288:g.8055_8056delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.146_147delinsAA MANE Select	ENSP00000262186.5:p.Cys49Ter
ENST00000262186.9:c.146_147delinsAA	ENSP00000262186.5:p.Cys49Ter
ENST00000430723.4:c.-32_-31delinsAA	ENSP00000387657.4:n.-32_-31delinsAA
ENST00000532957.5:n.369_370delinsAA
NM_000238.3:c.146_147delinsAA , LRG_288t1:c.146_147delinsAA	NP_000229.1:p.Cys49Ter
NM_172056.2:c.146_147delinsAA , LRG_288t2:c.146_147delinsAA	NP_742053.1:p.Cys49Ter
XM_011516186.1:c.146_147delinsAA	XP_011514488.1:p.Cys49Ter
XM_011516186.3:c.146_147delinsAA	XP_011514488.1:p.Cys49Ter
XM_017012196.1:c.-32_-31delinsAA	XP_016867685.1:n.-32_-31delinsAA
NM_000238.4:c.146_147delinsAA MANE Select	NP_000229.1:p.Cys49Ter