Canonical Allele Identifier: CA1752434586
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951165_150951166delinsCA , CM000669.2:g.150951165_150951166delinsCA GRCh38
NC_000007.13:g.150648253_150648254delinsCA , CM000669.1:g.150648253_150648254delinsCA GRCh37
NC_000007.12:g.150279186_150279187delinsCA NCBI36
NG_008916.1:g.31761_31762delinsTG , LRG_288:g.31761_31762delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1244-46_1244-45delinsTG
ENST00000683359.1:n.70-46_70-45delinsTG
ENST00000684241.1:n.2779-46_2779-45delinsTG
ENST00000262186.10:c.1946-46_1946-45delinsTG MANE Select ENSP00000262186.5:n.1946-46_1946-45delinsTG
ENST00000330883.9:c.926-46_926-45delinsTG ENSP00000328531.4:n.926-46_926-45delinsTG
ENST00000262186.9:c.1946-46_1946-45delinsTG ENSP00000262186.5:n.1946-46_1946-45delinsTG
ENST00000330883.8:c.926-46_926-45delinsTG ENSP00000328531.4:n.926-46_926-45delinsTG
ENST00000430723.4:c.1598-46_1598-45delinsTG ENSP00000387657.4:n.1598-46_1598-45delinsTG
ENST00000461280.1:n.1233-46_1233-45delinsTG
ENST00000473610.5:n.1532_1533delinsTG
ENST00000532957.5:n.2169-46_2169-45delinsTG
NM_000238.3:c.1946-46_1946-45delinsTG , LRG_288t1:c.1946-46_1946-45delinsTG NP_000229.1:n.1946-46_1946-45delinsTG
NM_001204798.1:c.926-46_926-45delinsTG NP_001191727.1:n.926-46_926-45delinsTG
NM_172056.2:c.1946-46_1946-45delinsTG , LRG_288t2:c.1946-46_1946-45delinsTG NP_742053.1:n.1946-46_1946-45delinsTG
NM_172057.2:c.926-46_926-45delinsTG , LRG_288t3:c.926-46_926-45delinsTG NP_742054.1:n.926-46_926-45delinsTG
XM_011516185.1:c.1646-46_1646-45delinsTG XP_011514487.1:n.1646-46_1646-45delinsTG
XM_011516186.1:c.1946-46_1946-45delinsTG XP_011514488.1:n.1946-46_1946-45delinsTG
XM_011516185.2:c.1646-46_1646-45delinsTG XP_011514487.1:n.1646-46_1646-45delinsTG
XM_011516186.3:c.1946-46_1946-45delinsTG XP_011514488.1:n.1946-46_1946-45delinsTG
XM_017012195.1:c.1796-46_1796-45delinsTG XP_016867684.1:n.1796-46_1796-45delinsTG
XM_017012196.1:c.1769-46_1769-45delinsTG XP_016867685.1:n.1769-46_1769-45delinsTG
NM_000238.4:c.1946-46_1946-45delinsTG MANE Select NP_000229.1:n.1946-46_1946-45delinsTG
NM_001204798.2:c.926-46_926-45delinsTG NP_001191727.1:n.926-46_926-45delinsTG
NM_172057.3:c.926-46_926-45delinsTG NP_742054.1:n.926-46_926-45delinsTG