Canonical Allele Identifier: CA028865

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945350C>T , CM000669.2:g.150945350C>T	GRCh38
NC_000007.13:g.150642438C>T , CM000669.1:g.150642438C>T	GRCh37
NC_000007.12:g.150273371C>T	NCBI36
NG_008916.1:g.37577G>A , LRG_288:g.37577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4328G>A
ENST00000262186.10:c.*15G>A MANE Select	ENSP00000262186.5:n.*15G>A
ENST00000330883.9:c.*15G>A	ENSP00000328531.4:n.*15G>A
ENST00000262186.9:c.*15G>A	ENSP00000262186.5:n.*15G>A
ENST00000330883.8:c.*15G>A	ENSP00000328531.4:n.*15G>A
NM_000238.3:c.*15G>A , LRG_288t1:c.*15G>A	NP_000229.1:n.*15G>A
NM_172057.2:c.*15G>A , LRG_288t3:c.*15G>A	NP_742054.1:n.*15G>A
XM_011516185.1:c.*15G>A	XP_011514487.1:n.*15G>A
XM_011516185.2:c.*15G>A	XP_011514487.1:n.*15G>A
XM_017012195.1:c.*15G>A	XP_016867684.1:n.*15G>A
XM_017012196.1:c.*15G>A	XP_016867685.1:n.*15G>A
NM_000238.4:c.*15G>A MANE Select	NP_000229.1:n.*15G>A
NM_172057.3:c.*15G>A	NP_742054.1:n.*15G>A