Canonical Allele Identifier: CA1752418421
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958323T= , CM000669.2:g.150958323T= GRCh38
NC_000007.13:g.150655411T= , CM000669.1:g.150655411T= GRCh37
NC_000007.12:g.150286344T= NCBI36
NG_008916.1:g.24604A= , LRG_288:g.24604A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1485A=
ENST00000262186.10:c.652A= MANE Select ENSP00000262186.5:p.Met218=
ENST00000262186.9:c.652A= ENSP00000262186.5:p.Met218=
ENST00000430723.4:c.304A= ENSP00000387657.4:p.Met102=
ENST00000532957.5:n.875A=
NM_000238.3:c.652A= , LRG_288t1:c.652A= NP_000229.1:p.Met218=
NM_172056.2:c.652A= , LRG_288t2:c.652A= NP_742053.1:p.Met218=
XM_011516185.1:c.352A= XP_011514487.1:p.Met118=
XM_011516186.1:c.652A= XP_011514488.1:p.Met218=
XM_011516185.2:c.352A= XP_011514487.1:p.Met118=
XM_011516186.3:c.652A= XP_011514488.1:p.Met218=
XM_017012195.1:c.502A= XP_016867684.1:p.Met168=
XM_017012196.1:c.475A= XP_016867685.1:p.Met159=
NM_000238.4:c.652A= MANE Select NP_000229.1:p.Met218=