Canonical Allele Identifier: CA1752416598

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957296_150957298delinsTGA , CM000669.2:g.150957296_150957298delinsTGA	GRCh38
NC_000007.13:g.150654384_150654386delinsTGA , CM000669.1:g.150654384_150654386delinsTGA	GRCh37
NC_000007.12:g.150285317_150285319delinsTGA	NCBI36
NG_008916.1:g.25629_25631delinsTCA , LRG_288:g.25629_25631delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1954_1956delinsTCA
ENST00000262186.10:c.1121_1123delinsTCA MANE Select	ENSP00000262186.5:p.Val374=
ENST00000262186.9:c.1121_1123delinsTCA	ENSP00000262186.5:p.Val374=
ENST00000430723.4:c.773_775delinsTCA	ENSP00000387657.4:p.Val258=
ENST00000532957.5:n.1344_1346delinsTCA
NM_000238.3:c.1121_1123delinsTCA , LRG_288t1:c.1121_1123delinsTCA	NP_000229.1:p.Val374=
NM_172056.2:c.1121_1123delinsTCA , LRG_288t2:c.1121_1123delinsTCA	NP_742053.1:p.Val374=
XM_011516185.1:c.821_823delinsTCA	XP_011514487.1:p.Val274=
XM_011516186.1:c.1121_1123delinsTCA	XP_011514488.1:p.Val374=
XM_011516185.2:c.821_823delinsTCA	XP_011514487.1:p.Val274=
XM_011516186.3:c.1121_1123delinsTCA	XP_011514488.1:p.Val374=
XM_017012195.1:c.971_973delinsTCA	XP_016867684.1:p.Val324=
XM_017012196.1:c.944_946delinsTCA	XP_016867685.1:p.Val315=
NM_000238.4:c.1121_1123delinsTCA MANE Select	NP_000229.1:p.Val374=