Canonical Allele Identifier: CA1752461772
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974713T= , CM000669.2:g.150974713T= GRCh38
NC_000007.13:g.150671801T= , CM000669.1:g.150671801T= GRCh37
NC_000007.12:g.150302734T= NCBI36
NG_008916.1:g.8214A= , LRG_288:g.8214A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.305A= MANE Select ENSP00000262186.5:p.Asp102=
ENST00000262186.9:c.305A= ENSP00000262186.5:p.Asp102=
ENST00000430723.4:c.128A= ENSP00000387657.4:p.Asp43=
ENST00000532957.5:n.528A=
NM_000238.3:c.305A= , LRG_288t1:c.305A= NP_000229.1:p.Asp102=
NM_172056.2:c.305A= , LRG_288t2:c.305A= NP_742053.1:p.Asp102=
XM_011516186.1:c.305A= XP_011514488.1:p.Asp102=
XM_011516186.3:c.305A= XP_011514488.1:p.Asp102=
XM_017012196.1:c.128A= XP_016867685.1:p.Asp43=
NM_000238.4:c.305A= MANE Select NP_000229.1:p.Asp102=