Canonical Allele Identifier: CA1752461084
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974433A= , CM000669.2:g.150974433A= GRCh38
NC_000007.13:g.150671521A= , CM000669.1:g.150671521A= GRCh37
NC_000007.12:g.150302454A= NCBI36
NG_008916.1:g.8494T= , LRG_288:g.8494T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.307+278T= MANE Select ENSP00000262186.5:n.307+278T=
ENST00000262186.9:c.307+278T= ENSP00000262186.5:n.307+278T=
ENST00000430723.4:c.130+278T= ENSP00000387657.4:n.130+278T=
ENST00000532957.5:n.530+278T=
NM_000238.3:c.307+278T= , LRG_288t1:c.307+278T= NP_000229.1:n.307+278T=
NM_172056.2:c.307+278T= , LRG_288t2:c.307+278T= NP_742053.1:n.307+278T=
XM_011516186.1:c.307+278T= XP_011514488.1:n.307+278T=
XM_011516185.2:c.-57T= XP_011514487.1:n.-57T=
XM_011516186.3:c.307+278T= XP_011514488.1:n.307+278T=
XM_017012196.1:c.130+278T= XP_016867685.1:n.130+278T=
NM_000238.4:c.307+278T= MANE Select NP_000229.1:n.307+278T=