Canonical Allele Identifier: CA2778426237
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974950dup , CM000669.2:g.150974950dup GRCh38
NC_000007.13:g.150672038dup , CM000669.1:g.150672038dup GRCh37
NC_000007.12:g.150302971dup NCBI36
NG_008916.1:g.7982dup , LRG_288:g.7982dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-4dup MANE Select ENSP00000262186.5:n.77-4dup
ENST00000262186.9:c.77-4dup ENSP00000262186.5:n.77-4dup
ENST00000430723.4:c.-101-4dup ENSP00000387657.4:n.-101-4dup
ENST00000532957.5:n.300-4dup
NM_000238.3:c.77-4dup , LRG_288t1:c.77-4dup NP_000229.1:n.77-4dup
NM_172056.2:c.77-4dup , LRG_288t2:c.77-4dup NP_742053.1:n.77-4dup
XM_011516186.1:c.77-4dup XP_011514488.1:n.77-4dup
XM_011516186.3:c.77-4dup XP_011514488.1:n.77-4dup
XM_017012196.1:c.-101-4dup XP_016867685.1:n.-101-4dup
NM_000238.4:c.77-4dup MANE Select NP_000229.1:n.77-4dup