Canonical Allele Identifier: CA2499218794

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1068978
• ClinVar RCV Id: RCV001380683
• dbSNP Id: rs2116940243

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948894del , CM000669.2:g.150948894del	GRCh38
NC_000007.13:g.150645982del , CM000669.1:g.150645982del	GRCh37
NC_000007.12:g.150276915del	NCBI36
NG_008916.1:g.34034del , LRG_288:g.34034del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3388del
ENST00000262186.10:c.2555del MANE Select	ENSP00000262186.5:p.Phe852SerfsTer16
ENST00000330883.9:c.1535del	ENSP00000328531.4:p.Phe512SerfsTer16
ENST00000262186.9:c.2555del	ENSP00000262186.5:p.Phe852SerfsTer16
ENST00000330883.8:c.1535del	ENSP00000328531.4:p.Phe512SerfsTer16
NM_000238.3:c.2555del , LRG_288t1:c.2555del	NP_000229.1:p.Phe852SerfsTer16
NM_172057.2:c.1535del , LRG_288t3:c.1535del	NP_742054.1:p.Phe512SerfsTer16
XM_011516185.1:c.2255del	XP_011514487.1:p.Phe752SerfsTer16
XM_011516186.1:c.2555del	XP_011514488.1:p.Phe852SerfsTer16
XM_011516185.2:c.2255del	XP_011514487.1:p.Phe752SerfsTer16
XM_011516186.3:c.2555del	XP_011514488.1:p.Phe852SerfsTer16
XM_017012195.1:c.2405del	XP_016867684.1:p.Phe802SerfsTer16
XM_017012196.1:c.2378del	XP_016867685.1:p.Phe793SerfsTer16
NM_000238.4:c.2555del MANE Select	NP_000229.1:p.Phe852SerfsTer16
NM_172057.3:c.1535del	NP_742054.1:p.Phe512SerfsTer16