Canonical Allele Identifier: CA006083
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200757
ClinVar RCV Id: RCV002408793
dbSNP Id: rs794728488
MyVariant Identifiers: chr7:g.150648210T>G (hg19) chr7:g.150951122T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951122T>G , CM000669.2:g.150951122T>G GRCh38
NC_000007.13:g.150648210T>G , CM000669.1:g.150648210T>G GRCh37
NC_000007.12:g.150279143T>G NCBI36
NG_008916.1:g.31805A>C , LRG_288:g.31805A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1244-2A>C
ENST00000683359.1:n.70-2A>C
ENST00000684241.1:n.2779-2A>C
ENST00000262186.10:c.1946-2A>C MANE Select ENSP00000262186.5:n.1946-2A>C
ENST00000330883.9:c.926-2A>C ENSP00000328531.4:n.926-2A>C
ENST00000262186.9:c.1946-2A>C ENSP00000262186.5:n.1946-2A>C
ENST00000330883.8:c.926-2A>C ENSP00000328531.4:n.926-2A>C
ENST00000430723.4:c.1598-2A>C ENSP00000387657.4:n.1598-2A>C
ENST00000461280.1:n.1233-2A>C
ENST00000473610.5:n.1576A>C
ENST00000532957.5:n.2169-2A>C
NM_000238.3:c.1946-2A>C , LRG_288t1:c.1946-2A>C NP_000229.1:n.1946-2A>C
NM_001204798.1:c.926-2A>C NP_001191727.1:n.926-2A>C
NM_172056.2:c.1946-2A>C , LRG_288t2:c.1946-2A>C NP_742053.1:n.1946-2A>C
NM_172057.2:c.926-2A>C , LRG_288t3:c.926-2A>C NP_742054.1:n.926-2A>C
XM_011516185.1:c.1646-2A>C XP_011514487.1:n.1646-2A>C
XM_011516186.1:c.1946-2A>C XP_011514488.1:n.1946-2A>C
XM_011516185.2:c.1646-2A>C XP_011514487.1:n.1646-2A>C
XM_011516186.3:c.1946-2A>C XP_011514488.1:n.1946-2A>C
XM_017012195.1:c.1796-2A>C XP_016867684.1:n.1796-2A>C
XM_017012196.1:c.1769-2A>C XP_016867685.1:n.1769-2A>C
NM_000238.4:c.1946-2A>C MANE Select NP_000229.1:n.1946-2A>C
NM_001204798.2:c.926-2A>C NP_001191727.1:n.926-2A>C
NM_172057.3:c.926-2A>C NP_742054.1:n.926-2A>C
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