Canonical Allele Identifier: CA2573141817

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1410845
• ClinVar RCV Id: RCV001940179 ; RCV002478370
• dbSNP Id: rs2117004283

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958224_150958225delinsAG , CM000669.2:g.150958224_150958225delinsAG	GRCh38
NC_000007.13:g.150655312_150655313delinsAG , CM000669.1:g.150655312_150655313delinsAG	GRCh37
NC_000007.12:g.150286245_150286246delinsAG	NCBI36
NG_008916.1:g.24702_24703delinsCT , LRG_288:g.24702_24703delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1583_1584delinsCT
ENST00000262186.10:c.750_751delinsCT MANE Select	ENSP00000262186.5:p.Pro251Ser
ENST00000262186.9:c.750_751delinsCT	ENSP00000262186.5:p.Pro251Ser
ENST00000430723.4:c.402_403delinsCT	ENSP00000387657.4:p.Pro135Ser
ENST00000532957.5:n.973_974delinsCT
NM_000238.3:c.750_751delinsCT , LRG_288t1:c.750_751delinsCT	NP_000229.1:p.Pro251Ser
NM_172056.2:c.750_751delinsCT , LRG_288t2:c.750_751delinsCT	NP_742053.1:p.Pro251Ser
XM_011516185.1:c.450_451delinsCT	XP_011514487.1:p.Pro151Ser
XM_011516186.1:c.750_751delinsCT	XP_011514488.1:p.Pro251Ser
XM_011516185.2:c.450_451delinsCT	XP_011514487.1:p.Pro151Ser
XM_011516186.3:c.750_751delinsCT	XP_011514488.1:p.Pro251Ser
XM_017012195.1:c.600_601delinsCT	XP_016867684.1:p.Pro201Ser
XM_017012196.1:c.573_574delinsCT	XP_016867685.1:p.Pro192Ser
NM_000238.4:c.750_751delinsCT MANE Select	NP_000229.1:p.Pro251Ser