Canonical Allele Identifier: CA2579063144
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977928del , CM000669.2:g.150977928del GRCh38
NC_000007.13:g.150675016del , CM000669.1:g.150675016del GRCh37
NC_000007.12:g.150305949del NCBI36
NG_008916.1:g.4999del , LRG_288:g.4999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.-15del MANE Select ENSP00000262186.5:n.-15del
ENST00000262186.9:c.-15del ENSP00000262186.5:n.-15del
ENST00000430723.4:c.-192del ENSP00000387657.4:n.-192del
ENST00000532957.5:n.209del
NM_000238.3:c.-15del , LRG_288t1:c.-15del NP_000229.1:n.-15del
NM_172056.2:c.-15del , LRG_288t2:c.-15del NP_742053.1:n.-15del
XM_011516186.1:c.-15del XP_011514488.1:n.-15del
XM_011516186.3:c.-15del XP_011514488.1:n.-15del
NM_000238.4:c.-15del MANE Select NP_000229.1:n.-15del