Canonical Allele Identifier: CA2573141861

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1418468
• ClinVar RCV Id: RCV001940442
• dbSNP Id: rs2116948300

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950165_150950166del , CM000669.2:g.150950165_150950166del	GRCh38
NC_000007.13:g.150647253_150647254del , CM000669.1:g.150647253_150647254del	GRCh37
NC_000007.12:g.150278186_150278187del	NCBI36
NG_008916.1:g.32762_32763del , LRG_288:g.32762_32763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1699_1700del
ENST00000684241.1:n.3231+3_3231+4del
ENST00000262186.10:c.2398+3_2398+4del MANE Select	ENSP00000262186.5:n.2398+3_2398+4del
ENST00000330883.9:c.1378+3_1378+4del	ENSP00000328531.4:n.1378+3_1378+4del
ENST00000262186.9:c.2398+3_2398+4del	ENSP00000262186.5:n.2398+3_2398+4del
ENST00000330883.8:c.1378+3_1378+4del	ENSP00000328531.4:n.1378+3_1378+4del
ENST00000430723.4:c.2053_2054del	ENSP00000387657.4:p.Met685GlyfsTer?
ENST00000461280.1:n.1688_1689del
ENST00000473610.5:n.2033_2034del
ENST00000532957.5:n.2624_2625del
NM_000238.3:c.2398+3_2398+4del , LRG_288t1:c.2398+3_2398+4del	NP_000229.1:n.2398+3_2398+4del
NM_001204798.1:c.1381_1382del	NP_001191727.1:p.Met461GlyfsTer?
NM_172056.2:c.2401_2402del , LRG_288t2:c.2401_2402del	NP_742053.1:p.Met801GlyfsTer?
NM_172057.2:c.1378+3_1378+4del , LRG_288t3:c.1378+3_1378+4del	NP_742054.1:n.1378+3_1378+4del
XM_011516185.1:c.2098+3_2098+4del	XP_011514487.1:n.2098+3_2098+4del
XM_011516186.1:c.2398+3_2398+4del	XP_011514488.1:n.2398+3_2398+4del
XM_011516185.2:c.2098+3_2098+4del	XP_011514487.1:n.2098+3_2098+4del
XM_011516186.3:c.2398+3_2398+4del	XP_011514488.1:n.2398+3_2398+4del
XM_017012195.1:c.2248+3_2248+4del	XP_016867684.1:n.2248+3_2248+4del
XM_017012196.1:c.2221+3_2221+4del	XP_016867685.1:n.2221+3_2221+4del
NM_000238.4:c.2398+3_2398+4del MANE Select	NP_000229.1:n.2398+3_2398+4del
NM_001204798.2:c.1381_1382del	NP_001191727.1:p.Met461GlyfsTer?
NM_172057.3:c.1378+3_1378+4del	NP_742054.1:n.1378+3_1378+4del