Canonical Allele Identifier: CA369853109

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947640G>T , CM000669.2:g.150947640G>T	GRCh38
NC_000007.13:g.150644728G>T , CM000669.1:g.150644728G>T	GRCh37
NC_000007.12:g.150275661G>T	NCBI36
NG_008916.1:g.35287C>A , LRG_288:g.35287C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2931C>A MANE Select	NP_000229.1:p.Cys977Ter
ENST00000262186.10:c.2931C>A MANE Select	ENSP00000262186.5:p.Cys977Ter
NM_000238.3:c.2931C>A , LRG_288t1:c.2931C>A	NP_000229.1:p.Cys977Ter
NM_172057.2:c.1911C>A , LRG_288t3:c.1911C>A	NP_742054.1:p.Cys637Ter
NM_172057.3:c.1911C>A	NP_742054.1:p.Cys637Ter
ENST00000262186.9:c.2931C>A	ENSP00000262186.5:p.Cys977Ter
ENST00000330883.8:c.1911C>A	ENSP00000328531.4:p.Cys637Ter
ENST00000330883.9:c.1911C>A	ENSP00000328531.4:p.Cys637Ter
ENST00000684241.1:n.3764C>A
XM_011516185.1:c.2631C>A	XP_011514487.1:p.Cys877Ter
XM_011516185.2:c.2631C>A	XP_011514487.1:p.Cys877Ter
XM_011516186.1:c.*11C>A	XP_011514488.1:n.*11C>A
XM_011516186.3:c.*11C>A	XP_011514488.1:n.*11C>A
XM_017012195.1:c.2781C>A	XP_016867684.1:p.Cys927Ter
XM_017012196.1:c.2754C>A	XP_016867685.1:p.Cys918Ter