Canonical Allele Identifier: CA369866598
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977838T>G , CM000669.2:g.150977838T>G GRCh38
NC_000007.13:g.150674926T>G , CM000669.1:g.150674926T>G GRCh37
NC_000007.12:g.150305859T>G NCBI36
NG_008916.1:g.5089A>C , LRG_288:g.5089A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.76A>C MANE Select ENSP00000262186.5:p.Ser26Arg
ENST00000262186.9:c.76A>C ENSP00000262186.5:p.Ser26Arg
ENST00000430723.4:c.-102A>C ENSP00000387657.4:n.-102A>C
ENST00000532957.5:n.299A>C
NM_000238.3:c.76A>C , LRG_288t1:c.76A>C NP_000229.1:p.Ser26Arg
NM_172056.2:c.76A>C , LRG_288t2:c.76A>C NP_742053.1:p.Ser26Arg
XM_011516186.1:c.76A>C XP_011514488.1:p.Ser26Arg
XM_011516186.3:c.76A>C XP_011514488.1:p.Ser26Arg
NM_000238.4:c.76A>C MANE Select NP_000229.1:p.Ser26Arg