Canonical Allele Identifier: CA2778425842
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950490_150950492del , CM000669.2:g.150950490_150950492del GRCh38
NC_000007.13:g.150647578_150647580del , CM000669.1:g.150647578_150647580del GRCh37
NC_000007.12:g.150278511_150278513del NCBI36
NG_008916.1:g.32436_32438del , LRG_288:g.32436_32438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1444-71_1444-69del
ENST00000684241.1:n.2979-71_2979-69del
ENST00000262186.10:c.2146-71_2146-69del MANE Select ENSP00000262186.5:n.2146-71_2146-69del
ENST00000330883.9:c.1126-71_1126-69del ENSP00000328531.4:n.1126-71_1126-69del
ENST00000262186.9:c.2146-71_2146-69del ENSP00000262186.5:n.2146-71_2146-69del
ENST00000330883.8:c.1126-71_1126-69del ENSP00000328531.4:n.1126-71_1126-69del
ENST00000430723.4:c.1798-71_1798-69del ENSP00000387657.4:n.1798-71_1798-69del
ENST00000461280.1:n.1433-71_1433-69del
ENST00000473610.5:n.1778-71_1778-69del
ENST00000532957.5:n.2369-71_2369-69del
NM_000238.3:c.2146-71_2146-69del , LRG_288t1:c.2146-71_2146-69del NP_000229.1:n.2146-71_2146-69del
NM_001204798.1:c.1126-71_1126-69del NP_001191727.1:n.1126-71_1126-69del
NM_172056.2:c.2146-71_2146-69del , LRG_288t2:c.2146-71_2146-69del NP_742053.1:n.2146-71_2146-69del
NM_172057.2:c.1126-71_1126-69del , LRG_288t3:c.1126-71_1126-69del NP_742054.1:n.1126-71_1126-69del
XM_011516185.1:c.1846-71_1846-69del XP_011514487.1:n.1846-71_1846-69del
XM_011516186.1:c.2146-71_2146-69del XP_011514488.1:n.2146-71_2146-69del
XM_011516185.2:c.1846-71_1846-69del XP_011514487.1:n.1846-71_1846-69del
XM_011516186.3:c.2146-71_2146-69del XP_011514488.1:n.2146-71_2146-69del
XM_017012195.1:c.1996-71_1996-69del XP_016867684.1:n.1996-71_1996-69del
XM_017012196.1:c.1969-71_1969-69del XP_016867685.1:n.1969-71_1969-69del
NM_000238.4:c.2146-71_2146-69del MANE Select NP_000229.1:n.2146-71_2146-69del
NM_001204798.2:c.1126-71_1126-69del NP_001191727.1:n.1126-71_1126-69del
NM_172057.3:c.1126-71_1126-69del NP_742054.1:n.1126-71_1126-69del