Canonical Allele Identifier: CA1752418417
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958321C= , CM000669.2:g.150958321C= GRCh38
NC_000007.13:g.150655409C= , CM000669.1:g.150655409C= GRCh37
NC_000007.12:g.150286342C= NCBI36
NG_008916.1:g.24606G= , LRG_288:g.24606G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1487G=
ENST00000262186.10:c.654G= MANE Select ENSP00000262186.5:p.Met218=
ENST00000262186.9:c.654G= ENSP00000262186.5:p.Met218=
ENST00000430723.4:c.306G= ENSP00000387657.4:p.Met102=
ENST00000532957.5:n.877G=
NM_000238.3:c.654G= , LRG_288t1:c.654G= NP_000229.1:p.Met218=
NM_172056.2:c.654G= , LRG_288t2:c.654G= NP_742053.1:p.Met218=
XM_011516185.1:c.354G= XP_011514487.1:p.Met118=
XM_011516186.1:c.654G= XP_011514488.1:p.Met218=
XM_011516185.2:c.354G= XP_011514487.1:p.Met118=
XM_011516186.3:c.654G= XP_011514488.1:p.Met218=
XM_017012195.1:c.504G= XP_016867684.1:p.Met168=
XM_017012196.1:c.477G= XP_016867685.1:p.Met159=
NM_000238.4:c.654G= MANE Select NP_000229.1:p.Met218=