Canonical Allele Identifier: CA369865834
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974882C>A , CM000669.2:g.150974882C>A GRCh38
NC_000007.13:g.150671970C>A , CM000669.1:g.150671970C>A GRCh37
NC_000007.12:g.150302903C>A NCBI36
NG_008916.1:g.8045G>T , LRG_288:g.8045G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.136G>T MANE Select ENSP00000262186.5:p.Asp46Tyr
ENST00000262186.9:c.136G>T ENSP00000262186.5:p.Asp46Tyr
ENST00000430723.4:c.-42G>T ENSP00000387657.4:n.-42G>T
ENST00000532957.5:n.359G>T
NM_000238.3:c.136G>T , LRG_288t1:c.136G>T NP_000229.1:p.Asp46Tyr
NM_172056.2:c.136G>T , LRG_288t2:c.136G>T NP_742053.1:p.Asp46Tyr
XM_011516186.1:c.136G>T XP_011514488.1:p.Asp46Tyr
XM_011516186.3:c.136G>T XP_011514488.1:p.Asp46Tyr
XM_017012196.1:c.-42G>T XP_016867685.1:n.-42G>T
NM_000238.4:c.136G>T MANE Select NP_000229.1:p.Asp46Tyr