Allele Registry

Canonical Allele Identifier: CA354046

Gene: KCNH2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr7:g.150958201dupG

GRCh38 chr7:g.150958200_150958201insG

GRCh37 chr7:g.150655289dupG

GRCh37 chr7:g.150655288_150655289insG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000208523

ClinVar Variation:

222674

dbSNP:

869025447

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958204dup , CM000669.2:g.150958204dup	GRCh38
NC_000007.13:g.150655292dup , CM000669.1:g.150655292dup	GRCh37
NC_000007.12:g.150286225dup	NCBI36
NG_008916.1:g.24726dup , LRG_288:g.24726dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1607dup
ENST00000262186.10:c.774dup MANE Select	ENSP00000262186.5:p.Asp259ArgfsTer?
ENST00000262186.9:c.774dup	ENSP00000262186.5:p.Asp259ArgfsTer?
ENST00000430723.4:c.426dup	ENSP00000387657.4:p.Asp143ArgfsTer?
ENST00000532957.5:n.997dup
NM_000238.3:c.774dup , LRG_288t1:c.774dup	NP_000229.1:p.Asp259ArgfsTer?
NM_172056.2:c.774dup , LRG_288t2:c.774dup	NP_742053.1:p.Asp259ArgfsTer?
XM_011516185.1:c.474dup	XP_011514487.1:p.Asp159ArgfsTer?
XM_011516186.1:c.774dup	XP_011514488.1:p.Asp259ArgfsTer?
XM_011516185.2:c.474dup	XP_011514487.1:p.Asp159ArgfsTer?
XM_011516186.3:c.774dup	XP_011514488.1:p.Asp259ArgfsTer?
XM_017012195.1:c.624dup	XP_016867684.1:p.Asp209ArgfsTer?
XM_017012196.1:c.597dup	XP_016867685.1:p.Asp200ArgfsTer?
NM_000238.4:c.774dup MANE Select	NP_000229.1:p.Asp259ArgfsTer?

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