Canonical Allele Identifier: CA305333
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200689
ClinVar RCV Id: RCV000182002
dbSNP Id: rs794728463
MyVariant Identifiers: chr7:g.150644742_150644743dupGG (hg19) chr7:g.150644741_150644742insGG (hg19) chr7:g.150947654_150947655dupGG (hg38) chr7:g.150947653_150947654insGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947656_150947657dup , CM000669.2:g.150947656_150947657dup GRCh38
NC_000007.13:g.150644744_150644745dup , CM000669.1:g.150644744_150644745dup GRCh37
NC_000007.12:g.150275677_150275678dup NCBI36
NG_008916.1:g.35272_35273dup , LRG_288:g.35272_35273dup

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3749_3750dup
ENST00000262186.10:c.2916_2917dup MANE Select ENSP00000262186.5:p.Leu973ProfsTer2
ENST00000330883.9:c.1896_1897dup ENSP00000328531.4:p.Leu633ProfsTer2
ENST00000262186.9:c.2916_2917dup ENSP00000262186.5:p.Leu973ProfsTer2
ENST00000330883.8:c.1896_1897dup ENSP00000328531.4:p.Leu633ProfsTer2
NM_000238.3:c.2916_2917dup , LRG_288t1:c.2916_2917dup NP_000229.1:p.Leu973ProfsTer2
NM_172057.2:c.1896_1897dup , LRG_288t3:c.1896_1897dup NP_742054.1:p.Leu633ProfsTer2
XM_011516185.1:c.2616_2617dup XP_011514487.1:p.Leu873ProfsTer2
XM_011516186.1:c.2729_2730dup XP_011514488.1:p.Ter911ProextTer?
XM_011516185.2:c.2616_2617dup XP_011514487.1:p.Leu873ProfsTer2
XM_011516186.3:c.2729_2730dup XP_011514488.1:p.Ter911ProextTer?
XM_017012195.1:c.2766_2767dup XP_016867684.1:p.Leu923ProfsTer2
XM_017012196.1:c.2739_2740dup XP_016867685.1:p.Leu914ProfsTer2
NM_000238.4:c.2916_2917dup MANE Select NP_000229.1:p.Leu973ProfsTer2
NM_172057.3:c.1896_1897dup NP_742054.1:p.Leu633ProfsTer2
Search 100 bp 5'
Search 100 bp 3'