Canonical Allele Identifier: CA1752432067

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949013T= , CM000669.2:g.150949013T=	GRCh38
NC_000007.13:g.150646101T= , CM000669.1:g.150646101T=	GRCh37
NC_000007.12:g.150277034T=	NCBI36
NG_008916.1:g.33914A= , LRG_288:g.33914A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3268A=
ENST00000262186.10:c.2435A= MANE Select	ENSP00000262186.5:p.Tyr812=
ENST00000330883.9:c.1415A=	ENSP00000328531.4:p.Tyr472=
ENST00000262186.9:c.2435A=	ENSP00000262186.5:p.Tyr812=
ENST00000330883.8:c.1415A=	ENSP00000328531.4:p.Tyr472=
NM_000238.3:c.2435A= , LRG_288t1:c.2435A=	NP_000229.1:p.Tyr812=
NM_172057.2:c.1415A= , LRG_288t3:c.1415A=	NP_742054.1:p.Tyr472=
XM_011516185.1:c.2135A=	XP_011514487.1:p.Tyr712=
XM_011516186.1:c.2435A=	XP_011514488.1:p.Tyr812=
XM_011516185.2:c.2135A=	XP_011514487.1:p.Tyr712=
XM_011516186.3:c.2435A=	XP_011514488.1:p.Tyr812=
XM_017012195.1:c.2285A=	XP_016867684.1:p.Tyr762=
XM_017012196.1:c.2258A=	XP_016867685.1:p.Tyr753=
NM_000238.4:c.2435A= MANE Select	NP_000229.1:p.Tyr812=
NM_172057.3:c.1415A=	NP_742054.1:p.Tyr472=