Canonical Allele Identifier: CA1752425893
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150945527_150945528delinsCA , CM000669.2:g.150945527_150945528delinsCA GRCh38
NC_000007.13:g.150642615_150642616delinsCA , CM000669.1:g.150642615_150642616delinsCA GRCh37
NC_000007.12:g.150273548_150273549delinsCA NCBI36
NG_008916.1:g.37399_37400delinsTG , LRG_288:g.37399_37400delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4164-14_4164-13delinsTG
ENST00000262186.10:c.3331-14_3331-13delinsTG MANE Select ENSP00000262186.5:n.3331-14_3331-13delinsTG
ENST00000330883.9:c.2311-14_2311-13delinsTG ENSP00000328531.4:n.2311-14_2311-13delinsTG
ENST00000262186.9:c.3331-14_3331-13delinsTG ENSP00000262186.5:n.3331-14_3331-13delinsTG
ENST00000330883.8:c.2311-14_2311-13delinsTG ENSP00000328531.4:n.2311-14_2311-13delinsTG
NM_000238.3:c.3331-14_3331-13delinsTG , LRG_288t1:c.3331-14_3331-13delinsTG NP_000229.1:n.3331-14_3331-13delinsTG
NM_172057.2:c.2311-14_2311-13delinsTG , LRG_288t3:c.2311-14_2311-13delinsTG NP_742054.1:n.2311-14_2311-13delinsTG
XM_011516185.1:c.3031-14_3031-13delinsTG XP_011514487.1:n.3031-14_3031-13delinsTG
XM_011516185.2:c.3031-14_3031-13delinsTG XP_011514487.1:n.3031-14_3031-13delinsTG
XM_017012195.1:c.3181-14_3181-13delinsTG XP_016867684.1:n.3181-14_3181-13delinsTG
XM_017012196.1:c.3154-14_3154-13delinsTG XP_016867685.1:n.3154-14_3154-13delinsTG
NM_000238.4:c.3331-14_3331-13delinsTG MANE Select NP_000229.1:n.3331-14_3331-13delinsTG
NM_172057.3:c.2311-14_2311-13delinsTG NP_742054.1:n.2311-14_2311-13delinsTG