Canonical Allele Identifier: CA036489

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947408G>A , CM000669.2:g.150947408G>A	GRCh38
NC_000007.13:g.150644496G>A , CM000669.1:g.150644496G>A	GRCh37
NC_000007.12:g.150275429G>A	NCBI36
NG_008916.1:g.35519C>T , LRG_288:g.35519C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3072C>T MANE Select	NP_000229.1:p.Asn1024=
ENST00000262186.10:c.3072C>T MANE Select	ENSP00000262186.5:p.Asn1024=
NM_000238.3:c.3072C>T , LRG_288t1:c.3072C>T	NP_000229.1:p.Asn1024=
NM_172057.2:c.2052C>T , LRG_288t3:c.2052C>T	NP_742054.1:p.Asn684=
NM_172057.3:c.2052C>T	NP_742054.1:p.Asn684=
ENST00000262186.9:c.3072C>T	ENSP00000262186.5:p.Asn1024=
ENST00000330883.8:c.2052C>T	ENSP00000328531.4:p.Asn684=
ENST00000330883.9:c.2052C>T	ENSP00000328531.4:p.Asn684=
ENST00000684241.1:n.3905C>T
XM_011516185.1:c.2772C>T	XP_011514487.1:p.Asn924=
XM_011516185.2:c.2772C>T	XP_011514487.1:p.Asn924=
XM_017012195.1:c.2922C>T	XP_016867684.1:p.Asn974=
XM_017012196.1:c.2895C>T	XP_016867685.1:p.Asn965=