Canonical Allele Identifier: CA005473
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67272
dbSNP Id: rs199472932

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951610T>C , CM000669.2:g.150951610T>C GRCh38
NC_000007.13:g.150648698T>C , CM000669.1:g.150648698T>C GRCh37
NC_000007.12:g.150279631T>C NCBI36
NG_008916.1:g.31317A>G , LRG_288:g.31317A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1081A>G
ENST00000684241.1:n.2616A>G
ENST00000262186.10:c.1783A>G MANE Select ENSP00000262186.5:p.Lys595Glu
ENST00000330883.9:c.763A>G ENSP00000328531.4:p.Lys255Glu
ENST00000262186.9:c.1783A>G ENSP00000262186.5:p.Lys595Glu
ENST00000330883.8:c.763A>G ENSP00000328531.4:p.Lys255Glu
ENST00000430723.4:c.1435A>G ENSP00000387657.4:p.Lys479Glu
ENST00000461280.1:n.1070A>G
ENST00000473610.5:n.1088A>G
ENST00000532957.5:n.2006A>G
NM_000238.3:c.1783A>G , LRG_288t1:c.1783A>G NP_000229.1:p.Lys595Glu
NM_001204798.1:c.763A>G NP_001191727.1:p.Lys255Glu
NM_172056.2:c.1783A>G , LRG_288t2:c.1783A>G NP_742053.1:p.Lys595Glu
NM_172057.2:c.763A>G , LRG_288t3:c.763A>G NP_742054.1:p.Lys255Glu
XM_011516185.1:c.1483A>G XP_011514487.1:p.Lys495Glu
XM_011516186.1:c.1783A>G XP_011514488.1:p.Lys595Glu
XM_011516185.2:c.1483A>G XP_011514487.1:p.Lys495Glu
XM_011516186.3:c.1783A>G XP_011514488.1:p.Lys595Glu
XM_017012195.1:c.1633A>G XP_016867684.1:p.Lys545Glu
XM_017012196.1:c.1606A>G XP_016867685.1:p.Lys536Glu
NM_000238.4:c.1783A>G MANE Select NP_000229.1:p.Lys595Glu
NM_001204798.2:c.763A>G NP_001191727.1:p.Lys255Glu
NM_172057.3:c.763A>G NP_742054.1:p.Lys255Glu