Canonical Allele Identifier: CA2685607281

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958102-CATGGCCTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958106_150958114del , CM000669.2:g.150958106_150958114del	GRCh38
NC_000007.13:g.150655194_150655202del , CM000669.1:g.150655194_150655202del	GRCh37
NC_000007.12:g.150286127_150286135del	NCBI36
NG_008916.1:g.24816_24824del , LRG_288:g.24816_24824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1697_1705del
ENST00000262186.10:c.864_872del MANE Select	ENSP00000262186.5:p.Ile288_Ala290del
ENST00000262186.9:c.864_872del	ENSP00000262186.5:p.Ile288_Ala290del
ENST00000430723.4:c.516_524del	ENSP00000387657.4:p.Ile172_Ala174del
ENST00000532957.5:n.1087_1095del
NM_000238.3:c.864_872del , LRG_288t1:c.864_872del	NP_000229.1:p.Ile288_Ala290del
NM_172056.2:c.864_872del , LRG_288t2:c.864_872del	NP_742053.1:p.Ile288_Ala290del
XM_011516185.1:c.564_572del	XP_011514487.1:p.Ile188_Ala190del
XM_011516186.1:c.864_872del	XP_011514488.1:p.Ile288_Ala290del
XM_011516185.2:c.564_572del	XP_011514487.1:p.Ile188_Ala190del
XM_011516186.3:c.864_872del	XP_011514488.1:p.Ile288_Ala290del
XM_017012195.1:c.714_722del	XP_016867684.1:p.Ile238_Ala240del
XM_017012196.1:c.687_695del	XP_016867685.1:p.Ile229_Ala231del
NM_000238.4:c.864_872del MANE Select	NP_000229.1:p.Ile288_Ala290del