Canonical Allele Identifier: CA1752461643
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974681G= , CM000669.2:g.150974681G= GRCh38
NC_000007.13:g.150671769G= , CM000669.1:g.150671769G= GRCh37
NC_000007.12:g.150302702G= NCBI36
NG_008916.1:g.8246C= , LRG_288:g.8246C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+30C= MANE Select ENSP00000262186.5:n.307+30C=
ENST00000262186.9:c.307+30C= ENSP00000262186.5:n.307+30C=
ENST00000430723.4:c.130+30C= ENSP00000387657.4:n.130+30C=
ENST00000532957.5:n.530+30C=
NM_000238.3:c.307+30C= , LRG_288t1:c.307+30C= NP_000229.1:n.307+30C=
NM_172056.2:c.307+30C= , LRG_288t2:c.307+30C= NP_742053.1:n.307+30C=
XM_011516186.1:c.307+30C= XP_011514488.1:n.307+30C=
XM_011516186.3:c.307+30C= XP_011514488.1:n.307+30C=
XM_017012196.1:c.130+30C= XP_016867685.1:n.130+30C=
NM_000238.4:c.307+30C= MANE Select NP_000229.1:n.307+30C=