Canonical Allele Identifier: CA1752417580
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957988C= , CM000669.2:g.150957988C= GRCh38
NC_000007.13:g.150655076C= , CM000669.1:g.150655076C= GRCh37
NC_000007.12:g.150286009C= NCBI36
NG_008916.1:g.24939G= , LRG_288:g.24939G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1749+71G=
ENST00000262186.10:c.916+71G= MANE Select ENSP00000262186.5:n.916+71G=
ENST00000262186.9:c.916+71G= ENSP00000262186.5:n.916+71G=
ENST00000430723.4:c.568+71G= ENSP00000387657.4:n.568+71G=
ENST00000532957.5:n.1139+71G=
NM_000238.3:c.916+71G= , LRG_288t1:c.916+71G= NP_000229.1:n.916+71G=
NM_172056.2:c.916+71G= , LRG_288t2:c.916+71G= NP_742053.1:n.916+71G=
XM_011516185.1:c.616+71G= XP_011514487.1:n.616+71G=
XM_011516186.1:c.916+71G= XP_011514488.1:n.916+71G=
XM_011516185.2:c.616+71G= XP_011514487.1:n.616+71G=
XM_011516186.3:c.916+71G= XP_011514488.1:n.916+71G=
XM_017012195.1:c.766+71G= XP_016867684.1:n.766+71G=
XM_017012196.1:c.739+71G= XP_016867685.1:n.739+71G=
NM_000238.4:c.916+71G= MANE Select NP_000229.1:n.916+71G=