Canonical Allele Identifier: CA1752416883
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957451T= , CM000669.2:g.150957451T= GRCh38
NC_000007.13:g.150654539T= , CM000669.1:g.150654539T= GRCh37
NC_000007.12:g.150285472T= NCBI36
NG_008916.1:g.25476A= , LRG_288:g.25476A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1801A=
ENST00000262186.10:c.968A= MANE Select ENSP00000262186.5:p.Asp323=
ENST00000262186.9:c.968A= ENSP00000262186.5:p.Asp323=
ENST00000430723.4:c.620A= ENSP00000387657.4:p.Asp207=
ENST00000532957.5:n.1191A=
NM_000238.3:c.968A= , LRG_288t1:c.968A= NP_000229.1:p.Asp323=
NM_172056.2:c.968A= , LRG_288t2:c.968A= NP_742053.1:p.Asp323=
XM_011516185.1:c.668A= XP_011514487.1:p.Asp223=
XM_011516186.1:c.968A= XP_011514488.1:p.Asp323=
XM_011516185.2:c.668A= XP_011514487.1:p.Asp223=
XM_011516186.3:c.968A= XP_011514488.1:p.Asp323=
XM_017012195.1:c.818A= XP_016867684.1:p.Asp273=
XM_017012196.1:c.791A= XP_016867685.1:p.Asp264=
NM_000238.4:c.968A= MANE Select NP_000229.1:p.Asp323=