Canonical Allele Identifier: CA1752461785
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974715T= , CM000669.2:g.150974715T= GRCh38
NC_000007.13:g.150671803T= , CM000669.1:g.150671803T= GRCh37
NC_000007.12:g.150302736T= NCBI36
NG_008916.1:g.8212A= , LRG_288:g.8212A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.303A= MANE Select ENSP00000262186.5:p.Lys101=
ENST00000262186.9:c.303A= ENSP00000262186.5:p.Lys101=
ENST00000430723.4:c.126A= ENSP00000387657.4:p.Lys42=
ENST00000532957.5:n.526A=
NM_000238.3:c.303A= , LRG_288t1:c.303A= NP_000229.1:p.Lys101=
NM_172056.2:c.303A= , LRG_288t2:c.303A= NP_742053.1:p.Lys101=
XM_011516186.1:c.303A= XP_011514488.1:p.Lys101=
XM_011516186.3:c.303A= XP_011514488.1:p.Lys101=
XM_017012196.1:c.126A= XP_016867685.1:p.Lys42=
NM_000238.4:c.303A= MANE Select NP_000229.1:p.Lys101=