Canonical Allele Identifier: CA1752418083
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958202G= , CM000669.2:g.150958202G= GRCh38
NC_000007.13:g.150655290G= , CM000669.1:g.150655290G= GRCh37
NC_000007.12:g.150286223G= NCBI36
NG_008916.1:g.24725C= , LRG_288:g.24725C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1606C=
ENST00000262186.10:c.773C= MANE Select ENSP00000262186.5:p.Pro258=
ENST00000262186.9:c.773C= ENSP00000262186.5:p.Pro258=
ENST00000430723.4:c.425C= ENSP00000387657.4:p.Pro142=
ENST00000532957.5:n.996C=
NM_000238.3:c.773C= , LRG_288t1:c.773C= NP_000229.1:p.Pro258=
NM_172056.2:c.773C= , LRG_288t2:c.773C= NP_742053.1:p.Pro258=
XM_011516185.1:c.473C= XP_011514487.1:p.Pro158=
XM_011516186.1:c.773C= XP_011514488.1:p.Pro258=
XM_011516185.2:c.473C= XP_011514487.1:p.Pro158=
XM_011516186.3:c.773C= XP_011514488.1:p.Pro258=
XM_017012195.1:c.623C= XP_016867684.1:p.Pro208=
XM_017012196.1:c.596C= XP_016867685.1:p.Pro199=
NM_000238.4:c.773C= MANE Select NP_000229.1:p.Pro258=