Canonical Allele Identifier: CA005139
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67237
ClinVar RCV Id: RCV000057948
dbSNP Id: rs199473038
MyVariant Identifiers: chr7:g.150648785A>C (hg19) chr7:g.150951697A>C (hg38)
PubMed: PMID:21499742 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951697A>C , CM000669.2:g.150951697A>C GRCh38
NC_000007.13:g.150648785A>C , CM000669.1:g.150648785A>C GRCh37
NC_000007.12:g.150279718A>C NCBI36
NG_008916.1:g.31230T>G , LRG_288:g.31230T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.994T>G
ENST00000684241.1:n.2529T>G
ENST00000262186.10:c.1696T>G MANE Select ENSP00000262186.5:p.Cys566Gly
ENST00000330883.9:c.676T>G ENSP00000328531.4:p.Cys226Gly
ENST00000262186.9:c.1696T>G ENSP00000262186.5:p.Cys566Gly
ENST00000330883.8:c.676T>G ENSP00000328531.4:p.Cys226Gly
ENST00000430723.4:c.1348T>G ENSP00000387657.4:p.Cys450Gly
ENST00000461280.1:n.983T>G
ENST00000473610.5:n.1001T>G
ENST00000532957.5:n.1919T>G
NM_000238.3:c.1696T>G , LRG_288t1:c.1696T>G NP_000229.1:p.Cys566Gly
NM_001204798.1:c.676T>G NP_001191727.1:p.Cys226Gly
NM_172056.2:c.1696T>G , LRG_288t2:c.1696T>G NP_742053.1:p.Cys566Gly
NM_172057.2:c.676T>G , LRG_288t3:c.676T>G NP_742054.1:p.Cys226Gly
XM_011516185.1:c.1396T>G XP_011514487.1:p.Cys466Gly
XM_011516186.1:c.1696T>G XP_011514488.1:p.Cys566Gly
XM_011516185.2:c.1396T>G XP_011514487.1:p.Cys466Gly
XM_011516186.3:c.1696T>G XP_011514488.1:p.Cys566Gly
XM_017012195.1:c.1546T>G XP_016867684.1:p.Cys516Gly
XM_017012196.1:c.1519T>G XP_016867685.1:p.Cys507Gly
NM_000238.4:c.1696T>G MANE Select NP_000229.1:p.Cys566Gly
NM_001204798.2:c.676T>G NP_001191727.1:p.Cys226Gly
NM_172057.3:c.676T>G NP_742054.1:p.Cys226Gly
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