Canonical Allele Identifier: CA835225874
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1472938113

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951205_150951208del , CM000669.2:g.150951205_150951208del GRCh38
NC_000007.13:g.150648293_150648296del , CM000669.1:g.150648293_150648296del GRCh37
NC_000007.12:g.150279226_150279229del NCBI36
NG_008916.1:g.31721_31724del , LRG_288:g.31721_31724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1244-86_1244-83del
ENST00000683359.1:n.70-86_70-83del
ENST00000684241.1:n.2779-86_2779-83del
ENST00000262186.10:c.1946-86_1946-83del MANE Select ENSP00000262186.5:n.1946-86_1946-83del
ENST00000330883.9:c.926-86_926-83del ENSP00000328531.4:n.926-86_926-83del
ENST00000262186.9:c.1946-86_1946-83del ENSP00000262186.5:n.1946-86_1946-83del
ENST00000330883.8:c.926-86_926-83del ENSP00000328531.4:n.926-86_926-83del
ENST00000430723.4:c.1598-86_1598-83del ENSP00000387657.4:n.1598-86_1598-83del
ENST00000461280.1:n.1233-86_1233-83del
ENST00000473610.5:n.1492_1495del
ENST00000532957.5:n.2169-86_2169-83del
NM_000238.3:c.1946-86_1946-83del , LRG_288t1:c.1946-86_1946-83del NP_000229.1:n.1946-86_1946-83del
NM_001204798.1:c.926-86_926-83del NP_001191727.1:n.926-86_926-83del
NM_172056.2:c.1946-86_1946-83del , LRG_288t2:c.1946-86_1946-83del NP_742053.1:n.1946-86_1946-83del
NM_172057.2:c.926-86_926-83del , LRG_288t3:c.926-86_926-83del NP_742054.1:n.926-86_926-83del
XM_011516185.1:c.1646-86_1646-83del XP_011514487.1:n.1646-86_1646-83del
XM_011516186.1:c.1946-86_1946-83del XP_011514488.1:n.1946-86_1946-83del
XM_011516185.2:c.1646-86_1646-83del XP_011514487.1:n.1646-86_1646-83del
XM_011516186.3:c.1946-86_1946-83del XP_011514488.1:n.1946-86_1946-83del
XM_017012195.1:c.1796-86_1796-83del XP_016867684.1:n.1796-86_1796-83del
XM_017012196.1:c.1769-86_1769-83del XP_016867685.1:n.1769-86_1769-83del
NM_000238.4:c.1946-86_1946-83del MANE Select NP_000229.1:n.1946-86_1946-83del
NM_001204798.2:c.926-86_926-83del NP_001191727.1:n.926-86_926-83del
NM_172057.3:c.926-86_926-83del NP_742054.1:n.926-86_926-83del