Canonical Allele Identifier: CA005813
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200749
dbSNP Id: rs121912507

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951511C>G , CM000669.2:g.150951511C>G GRCh38
NC_000007.13:g.150648599C>G , CM000669.1:g.150648599C>G GRCh37
NC_000007.12:g.150279532C>G NCBI36
NG_008916.1:g.31416G>C , LRG_288:g.31416G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1180G>C
ENST00000683359.1:n.6G>C
ENST00000684241.1:n.2715G>C
ENST00000262186.10:c.1882G>C MANE Select ENSP00000262186.5:p.Gly628Arg
ENST00000330883.9:c.862G>C ENSP00000328531.4:p.Gly288Arg
ENST00000262186.9:c.1882G>C ENSP00000262186.5:p.Gly628Arg
ENST00000330883.8:c.862G>C ENSP00000328531.4:p.Gly288Arg
ENST00000430723.4:c.1534G>C ENSP00000387657.4:p.Gly512Arg
ENST00000461280.1:n.1169G>C
ENST00000473610.5:n.1187G>C
ENST00000532957.5:n.2105G>C
NM_000238.3:c.1882G>C , LRG_288t1:c.1882G>C NP_000229.1:p.Gly628Arg
NM_001204798.1:c.862G>C NP_001191727.1:p.Gly288Arg
NM_172056.2:c.1882G>C , LRG_288t2:c.1882G>C NP_742053.1:p.Gly628Arg
NM_172057.2:c.862G>C , LRG_288t3:c.862G>C NP_742054.1:p.Gly288Arg
XM_011516185.1:c.1582G>C XP_011514487.1:p.Gly528Arg
XM_011516186.1:c.1882G>C XP_011514488.1:p.Gly628Arg
XM_011516185.2:c.1582G>C XP_011514487.1:p.Gly528Arg
XM_011516186.3:c.1882G>C XP_011514488.1:p.Gly628Arg
XM_017012195.1:c.1732G>C XP_016867684.1:p.Gly578Arg
XM_017012196.1:c.1705G>C XP_016867685.1:p.Gly569Arg
NM_000238.4:c.1882G>C MANE Select NP_000229.1:p.Gly628Arg
NM_001204798.2:c.862G>C NP_001191727.1:p.Gly288Arg
NM_172057.3:c.862G>C NP_742054.1:p.Gly288Arg