Canonical Allele Identifier: CA2573141819

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1424899
• ClinVar RCV Id: RCV001957282
• dbSNP Id: rs1309145286
• gnomAD v4: 7-150958404-G-GGGCGCCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958406_150958414dup , CM000669.2:g.150958406_150958414dup	GRCh38
NC_000007.13:g.150655494_150655502dup , CM000669.1:g.150655494_150655502dup	GRCh37
NC_000007.12:g.150286427_150286435dup	NCBI36
NG_008916.1:g.24514_24522dup , LRG_288:g.24514_24522dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1395_1403dup
ENST00000262186.10:c.562_570dup MANE Select	ENSP00000262186.5:p.Ala190_Pro191insAlaGlyAla
ENST00000262186.9:c.562_570dup	ENSP00000262186.5:p.Ala190_Pro191insAlaGlyAla
ENST00000430723.4:c.235-21_235-13dup	ENSP00000387657.4:n.235-21_235-13dup
ENST00000532957.5:n.785_793dup
NM_000238.3:c.562_570dup , LRG_288t1:c.562_570dup	NP_000229.1:p.Ala190_Pro191insAlaGlyAla
NM_172056.2:c.562_570dup , LRG_288t2:c.562_570dup	NP_742053.1:p.Ala190_Pro191insAlaGlyAla
XM_011516185.1:c.262_270dup	XP_011514487.1:p.Ala90_Pro91insAlaGlyAla
XM_011516186.1:c.562_570dup	XP_011514488.1:p.Ala190_Pro191insAlaGlyAla
XM_011516185.2:c.262_270dup	XP_011514487.1:p.Ala90_Pro91insAlaGlyAla
XM_011516186.3:c.562_570dup	XP_011514488.1:p.Ala190_Pro191insAlaGlyAla
XM_017012195.1:c.412_420dup	XP_016867684.1:p.Ala140_Pro141insAlaGlyAla
XM_017012196.1:c.385_393dup	XP_016867685.1:p.Ala131_Pro132insAlaGlyAla
NM_000238.4:c.562_570dup MANE Select	NP_000229.1:p.Ala190_Pro191insAlaGlyAla