Canonical Allele Identifier: CA1752417566
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957970A= , CM000669.2:g.150957970A= GRCh38
NC_000007.13:g.150655058A= , CM000669.1:g.150655058A= GRCh37
NC_000007.12:g.150285991A= NCBI36
NG_008916.1:g.24957T= , LRG_288:g.24957T=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1749+89T=
ENST00000262186.10:c.916+89T= MANE Select ENSP00000262186.5:n.916+89T=
ENST00000262186.9:c.916+89T= ENSP00000262186.5:n.916+89T=
ENST00000430723.4:c.568+89T= ENSP00000387657.4:n.568+89T=
ENST00000532957.5:n.1139+89T=
NM_000238.3:c.916+89T= , LRG_288t1:c.916+89T= NP_000229.1:n.916+89T=
NM_172056.2:c.916+89T= , LRG_288t2:c.916+89T= NP_742053.1:n.916+89T=
XM_011516185.1:c.616+89T= XP_011514487.1:n.616+89T=
XM_011516186.1:c.916+89T= XP_011514488.1:n.916+89T=
XM_011516185.2:c.616+89T= XP_011514487.1:n.616+89T=
XM_011516186.3:c.916+89T= XP_011514488.1:n.916+89T=
XM_017012195.1:c.766+89T= XP_016867684.1:n.766+89T=
XM_017012196.1:c.739+89T= XP_016867685.1:n.739+89T=
NM_000238.4:c.916+89T= MANE Select NP_000229.1:n.916+89T=