Canonical Allele Identifier: CA2695208657

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959576_150959578dup , CM000669.2:g.150959576_150959578dup	GRCh38
NC_000007.13:g.150656664_150656666dup , CM000669.1:g.150656664_150656666dup	GRCh37
NC_000007.12:g.150287597_150287599dup	NCBI36
NG_008916.1:g.23349_23351dup , LRG_288:g.23349_23351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1299_1301dup
ENST00000262186.10:c.466_468dup MANE Select	ENSP00000262186.5:p.Ala156_Pro157insAla
ENST00000262186.9:c.466_468dup	ENSP00000262186.5:p.Ala156_Pro157insAla
ENST00000430723.4:c.234+55_234+57dup	ENSP00000387657.4:n.234+55_234+57dup
ENST00000532957.5:n.689_691dup
NM_000238.3:c.466_468dup , LRG_288t1:c.466_468dup	NP_000229.1:p.Ala156_Pro157insAla
NM_172056.2:c.466_468dup , LRG_288t2:c.466_468dup	NP_742053.1:p.Ala156_Pro157insAla
XM_011516185.1:c.166_168dup	XP_011514487.1:p.Ala56_Pro57insAla
XM_011516186.1:c.466_468dup	XP_011514488.1:p.Ala156_Pro157insAla
XM_011516185.2:c.166_168dup	XP_011514487.1:p.Ala56_Pro57insAla
XM_011516186.3:c.466_468dup	XP_011514488.1:p.Ala156_Pro157insAla
XM_017012195.1:c.316_318dup	XP_016867684.1:p.Ala106_Pro107insAla
XM_017012196.1:c.289_291dup	XP_016867685.1:p.Ala97_Pro98insAla
NM_000238.4:c.466_468dup MANE Select	NP_000229.1:p.Ala156_Pro157insAla