Canonical Allele Identifier: CA2685605926
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150975069-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975073dup , CM000669.2:g.150975073dup GRCh38
NC_000007.13:g.150672161dup , CM000669.1:g.150672161dup GRCh37
NC_000007.12:g.150303094dup NCBI36
NG_008916.1:g.7857dup , LRG_288:g.7857dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-129dup MANE Select ENSP00000262186.5:n.77-129dup
ENST00000262186.9:c.77-129dup ENSP00000262186.5:n.77-129dup
ENST00000430723.4:c.-101-129dup ENSP00000387657.4:n.-101-129dup
ENST00000532957.5:n.300-129dup
NM_000238.3:c.77-129dup , LRG_288t1:c.77-129dup NP_000229.1:n.77-129dup
NM_172056.2:c.77-129dup , LRG_288t2:c.77-129dup NP_742053.1:n.77-129dup
XM_011516186.1:c.77-129dup XP_011514488.1:n.77-129dup
XM_011516186.3:c.77-129dup XP_011514488.1:n.77-129dup
NM_000238.4:c.77-129dup MANE Select NP_000229.1:n.77-129dup
Search 100 bp 5'
Search 100 bp 3'