Canonical Allele Identifier: CA2695208635

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958217_150958218del , CM000669.2:g.150958217_150958218del	GRCh38
NC_000007.13:g.150655305_150655306del , CM000669.1:g.150655305_150655306del	GRCh37
NC_000007.12:g.150286238_150286239del	NCBI36
NG_008916.1:g.24711_24712del , LRG_288:g.24711_24712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1592_1593del
ENST00000262186.10:c.759_760del MANE Select	ENSP00000262186.5:p.His254GlnfsTer?
ENST00000262186.9:c.759_760del	ENSP00000262186.5:p.His254GlnfsTer?
ENST00000430723.4:c.411_412del	ENSP00000387657.4:p.His138GlnfsTer?
ENST00000532957.5:n.982_983del
NM_000238.3:c.759_760del , LRG_288t1:c.759_760del	NP_000229.1:p.His254GlnfsTer?
NM_172056.2:c.759_760del , LRG_288t2:c.759_760del	NP_742053.1:p.His254GlnfsTer?
XM_011516185.1:c.459_460del	XP_011514487.1:p.His154GlnfsTer?
XM_011516186.1:c.759_760del	XP_011514488.1:p.His254GlnfsTer?
XM_011516185.2:c.459_460del	XP_011514487.1:p.His154GlnfsTer?
XM_011516186.3:c.759_760del	XP_011514488.1:p.His254GlnfsTer?
XM_017012195.1:c.609_610del	XP_016867684.1:p.His204GlnfsTer?
XM_017012196.1:c.582_583del	XP_016867685.1:p.His195GlnfsTer?
NM_000238.4:c.759_760del MANE Select	NP_000229.1:p.His254GlnfsTer?