Canonical Allele Identifier: CA2685605976
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975086dup , CM000669.2:g.150975086dup GRCh38
NC_000007.13:g.150672174dup , CM000669.1:g.150672174dup GRCh37
NC_000007.12:g.150303107dup NCBI36
NG_008916.1:g.7845dup , LRG_288:g.7845dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-141dup MANE Select ENSP00000262186.5:n.77-141dup
ENST00000262186.9:c.77-141dup ENSP00000262186.5:n.77-141dup
ENST00000430723.4:c.-101-141dup ENSP00000387657.4:n.-101-141dup
ENST00000532957.5:n.300-141dup
NM_000238.3:c.77-141dup , LRG_288t1:c.77-141dup NP_000229.1:n.77-141dup
NM_172056.2:c.77-141dup , LRG_288t2:c.77-141dup NP_742053.1:n.77-141dup
XM_011516186.1:c.77-141dup XP_011514488.1:n.77-141dup
XM_011516186.3:c.77-141dup XP_011514488.1:n.77-141dup
NM_000238.4:c.77-141dup MANE Select NP_000229.1:n.77-141dup