Canonical Allele Identifier: CA005546
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67281
dbSNP Id: rs199473522

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951583C>T , CM000669.2:g.150951583C>T GRCh38
NC_000007.13:g.150648671C>T , CM000669.1:g.150648671C>T GRCh37
NC_000007.12:g.150279604C>T NCBI36
NG_008916.1:g.31344G>A , LRG_288:g.31344G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1108G>A
ENST00000684241.1:n.2643G>A
ENST00000262186.10:c.1810G>A MANE Select ENSP00000262186.5:p.Gly604Ser
ENST00000330883.9:c.790G>A ENSP00000328531.4:p.Gly264Ser
ENST00000262186.9:c.1810G>A ENSP00000262186.5:p.Gly604Ser
ENST00000330883.8:c.790G>A ENSP00000328531.4:p.Gly264Ser
ENST00000430723.4:c.1462G>A ENSP00000387657.4:p.Gly488Ser
ENST00000461280.1:n.1097G>A
ENST00000473610.5:n.1115G>A
ENST00000532957.5:n.2033G>A
NM_000238.3:c.1810G>A , LRG_288t1:c.1810G>A NP_000229.1:p.Gly604Ser
NM_001204798.1:c.790G>A NP_001191727.1:p.Gly264Ser
NM_172056.2:c.1810G>A , LRG_288t2:c.1810G>A NP_742053.1:p.Gly604Ser
NM_172057.2:c.790G>A , LRG_288t3:c.790G>A NP_742054.1:p.Gly264Ser
XM_011516185.1:c.1510G>A XP_011514487.1:p.Gly504Ser
XM_011516186.1:c.1810G>A XP_011514488.1:p.Gly604Ser
XM_011516185.2:c.1510G>A XP_011514487.1:p.Gly504Ser
XM_011516186.3:c.1810G>A XP_011514488.1:p.Gly604Ser
XM_017012195.1:c.1660G>A XP_016867684.1:p.Gly554Ser
XM_017012196.1:c.1633G>A XP_016867685.1:p.Gly545Ser
NM_000238.4:c.1810G>A MANE Select NP_000229.1:p.Gly604Ser
NM_001204798.2:c.790G>A NP_001191727.1:p.Gly264Ser
NM_172057.3:c.790G>A NP_742054.1:p.Gly264Ser