Canonical Allele Identifier: CA645294046
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426429
ClinVar RCV Id: RCV000489511
dbSNP Id: rs1085307620
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958306_150958310delinsG , CM000669.2:g.150958306_150958310delinsG GRCh38
NC_000007.13:g.150655394_150655398delinsG , CM000669.1:g.150655394_150655398delinsG GRCh37
NC_000007.12:g.150286327_150286331delinsG NCBI36
NG_008916.1:g.24617_24621delinsC , LRG_288:g.24617_24621delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1498_1502delinsC
ENST00000262186.10:c.665_669delinsC MANE Select ENSP00000262186.5:p.Val222AlafsTer?
ENST00000262186.9:c.665_669delinsC ENSP00000262186.5:p.Val222AlafsTer?
ENST00000430723.4:c.317_321delinsC ENSP00000387657.4:p.Val106AlafsTer?
ENST00000532957.5:n.888_892delinsC
NM_000238.3:c.665_669delinsC , LRG_288t1:c.665_669delinsC NP_000229.1:p.Val222AlafsTer?
NM_172056.2:c.665_669delinsC , LRG_288t2:c.665_669delinsC NP_742053.1:p.Val222AlafsTer?
XM_011516185.1:c.365_369delinsC XP_011514487.1:p.Val122AlafsTer?
XM_011516186.1:c.665_669delinsC XP_011514488.1:p.Val222AlafsTer?
XM_011516185.2:c.365_369delinsC XP_011514487.1:p.Val122AlafsTer?
XM_011516186.3:c.665_669delinsC XP_011514488.1:p.Val222AlafsTer?
XM_017012195.1:c.515_519delinsC XP_016867684.1:p.Val172AlafsTer?
XM_017012196.1:c.488_492delinsC XP_016867685.1:p.Val163AlafsTer?
NM_000238.4:c.665_669delinsC MANE Select NP_000229.1:p.Val222AlafsTer?
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