Canonical Allele Identifier: CA2778426478
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977615_150977616insA , CM000669.2:g.150977615_150977616insA GRCh38
NC_000007.13:g.150674703_150674704insA , CM000669.1:g.150674703_150674704insA GRCh37
NC_000007.12:g.150305636_150305637insA NCBI36
NG_008916.1:g.5311_5312insT , LRG_288:g.5311_5312insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.76+222_76+223insT MANE Select ENSP00000262186.5:n.76+222_76+223insT
ENST00000262186.9:c.76+222_76+223insT ENSP00000262186.5:n.76+222_76+223insT
ENST00000430723.4:c.-102+222_-102+223insT ENSP00000387657.4:n.-102+222_-102+223insT
ENST00000532957.5:n.299+222_299+223insT
NM_000238.3:c.76+222_76+223insT , LRG_288t1:c.76+222_76+223insT NP_000229.1:n.76+222_76+223insT
NM_172056.2:c.76+222_76+223insT , LRG_288t2:c.76+222_76+223insT NP_742053.1:n.76+222_76+223insT
XM_011516186.1:c.76+222_76+223insT XP_011514488.1:n.76+222_76+223insT
XM_011516186.3:c.76+222_76+223insT XP_011514488.1:n.76+222_76+223insT
NM_000238.4:c.76+222_76+223insT MANE Select NP_000229.1:n.76+222_76+223insT