Canonical Allele Identifier: CA2499218791

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1076538
• ClinVar RCV Id: RCV001390484
• dbSNP Id: rs2116937449

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948453_150948456dup , CM000669.2:g.150948453_150948456dup	GRCh38
NC_000007.13:g.150645541_150645544dup , CM000669.1:g.150645541_150645544dup	GRCh37
NC_000007.12:g.150276474_150276477dup	NCBI36
NG_008916.1:g.34473_34476dup , LRG_288:g.34473_34476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3515_3518dup
ENST00000262186.10:c.2682_2685dup MANE Select	ENSP00000262186.5:p.Asp896HisfsTer25
ENST00000330883.9:c.1662_1665dup	ENSP00000328531.4:p.Asp556HisfsTer25
ENST00000262186.9:c.2682_2685dup	ENSP00000262186.5:p.Asp896HisfsTer25
ENST00000330883.8:c.1662_1665dup	ENSP00000328531.4:p.Asp556HisfsTer25
NM_000238.3:c.2682_2685dup , LRG_288t1:c.2682_2685dup	NP_000229.1:p.Asp896HisfsTer25
NM_172057.2:c.1662_1665dup , LRG_288t3:c.1662_1665dup	NP_742054.1:p.Asp556HisfsTer25
XM_011516185.1:c.2382_2385dup	XP_011514487.1:p.Asp796HisfsTer25
XM_011516186.1:c.2682_2685dup	XP_011514488.1:p.Asp896HisfsTer?
XM_011516185.2:c.2382_2385dup	XP_011514487.1:p.Asp796HisfsTer25
XM_011516186.3:c.2682_2685dup	XP_011514488.1:p.Asp896HisfsTer?
XM_017012195.1:c.2532_2535dup	XP_016867684.1:p.Asp846HisfsTer25
XM_017012196.1:c.2505_2508dup	XP_016867685.1:p.Asp837HisfsTer25
NM_000238.4:c.2682_2685dup MANE Select	NP_000229.1:p.Asp896HisfsTer25
NM_172057.3:c.1662_1665dup	NP_742054.1:p.Asp556HisfsTer25