Canonical Allele Identifier: CA1752445397
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977351C= , CM000669.2:g.150977351C= GRCh38
NC_000007.13:g.150674439C= , CM000669.1:g.150674439C= GRCh37
NC_000007.12:g.150305372C= NCBI36
NG_008916.1:g.5576G= , LRG_288:g.5576G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+487G= MANE Select ENSP00000262186.5:n.76+487G=
ENST00000262186.9:c.76+487G= ENSP00000262186.5:n.76+487G=
ENST00000430723.4:c.-102+487G= ENSP00000387657.4:n.-102+487G=
ENST00000532957.5:n.299+487G=
NM_000238.3:c.76+487G= , LRG_288t1:c.76+487G= NP_000229.1:n.76+487G=
NM_172056.2:c.76+487G= , LRG_288t2:c.76+487G= NP_742053.1:n.76+487G=
XM_011516186.1:c.76+487G= XP_011514488.1:n.76+487G=
XM_011516186.3:c.76+487G= XP_011514488.1:n.76+487G=
NM_000238.4:c.76+487G= MANE Select NP_000229.1:n.76+487G=