Canonical Allele Identifier: CA1752418155
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958239C= , CM000669.2:g.150958239C= GRCh38
NC_000007.13:g.150655327C= , CM000669.1:g.150655327C= GRCh37
NC_000007.12:g.150286260C= NCBI36
NG_008916.1:g.24688G= , LRG_288:g.24688G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1569G=
ENST00000262186.10:c.736G= MANE Select ENSP00000262186.5:p.Gly246=
ENST00000262186.9:c.736G= ENSP00000262186.5:p.Gly246=
ENST00000430723.4:c.388G= ENSP00000387657.4:p.Gly130=
ENST00000532957.5:n.959G=
NM_000238.3:c.736G= , LRG_288t1:c.736G= NP_000229.1:p.Gly246=
NM_172056.2:c.736G= , LRG_288t2:c.736G= NP_742053.1:p.Gly246=
XM_011516185.1:c.436G= XP_011514487.1:p.Gly146=
XM_011516186.1:c.736G= XP_011514488.1:p.Gly246=
XM_011516185.2:c.436G= XP_011514487.1:p.Gly146=
XM_011516186.3:c.736G= XP_011514488.1:p.Gly246=
XM_017012195.1:c.586G= XP_016867684.1:p.Gly196=
XM_017012196.1:c.559G= XP_016867685.1:p.Gly187=
NM_000238.4:c.736G= MANE Select NP_000229.1:p.Gly246=