Canonical Allele Identifier: CA1752420256
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959822_150959823delinsTG , CM000669.2:g.150959822_150959823delinsTG GRCh38
NC_000007.13:g.150656910_150656911delinsTG , CM000669.1:g.150656910_150656911delinsTG GRCh37
NC_000007.12:g.150287843_150287844delinsTG NCBI36
NG_008916.1:g.23104_23105delinsCA , LRG_288:g.23104_23105delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1054_1055delinsCA
ENST00000262186.10:c.308-87_308-86delinsCA MANE Select ENSP00000262186.5:n.308-87_308-86delinsCA
ENST00000262186.9:c.308-87_308-86delinsCA ENSP00000262186.5:n.308-87_308-86delinsCA
ENST00000430723.4:c.131-87_131-86delinsCA ENSP00000387657.4:n.131-87_131-86delinsCA
ENST00000532957.5:n.531-87_531-86delinsCA
NM_000238.3:c.308-87_308-86delinsCA , LRG_288t1:c.308-87_308-86delinsCA NP_000229.1:n.308-87_308-86delinsCA
NM_172056.2:c.308-87_308-86delinsCA , LRG_288t2:c.308-87_308-86delinsCA NP_742053.1:n.308-87_308-86delinsCA
XM_011516185.1:c.8-87_8-86delinsCA XP_011514487.1:n.8-87_8-86delinsCA
XM_011516186.1:c.308-87_308-86delinsCA XP_011514488.1:n.308-87_308-86delinsCA
XM_011516185.2:c.8-87_8-86delinsCA XP_011514487.1:n.8-87_8-86delinsCA
XM_011516186.3:c.308-87_308-86delinsCA XP_011514488.1:n.308-87_308-86delinsCA
XM_017012195.1:c.158-87_158-86delinsCA XP_016867684.1:n.158-87_158-86delinsCA
XM_017012196.1:c.131-87_131-86delinsCA XP_016867685.1:n.131-87_131-86delinsCA
NM_000238.4:c.308-87_308-86delinsCA MANE Select NP_000229.1:n.308-87_308-86delinsCA