Canonical Allele Identifier: CA1752428823

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947390_150947392delinsCGG , CM000669.2:g.150947390_150947392delinsCGG	GRCh38
NC_000007.13:g.150644478_150644480delinsCGG , CM000669.1:g.150644478_150644480delinsCGG	GRCh37
NC_000007.12:g.150275411_150275413delinsCGG	NCBI36
NG_008916.1:g.35535_35537delinsCCG , LRG_288:g.35535_35537delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3921_3923delinsCCG
ENST00000262186.10:c.3088_3090delinsCCG MANE Select	ENSP00000262186.5:p.Pro1030=
ENST00000330883.9:c.2068_2070delinsCCG	ENSP00000328531.4:p.Pro690=
ENST00000262186.9:c.3088_3090delinsCCG	ENSP00000262186.5:p.Pro1030=
ENST00000330883.8:c.2068_2070delinsCCG	ENSP00000328531.4:p.Pro690=
NM_000238.3:c.3088_3090delinsCCG , LRG_288t1:c.3088_3090delinsCCG	NP_000229.1:p.Pro1030=
NM_172057.2:c.2068_2070delinsCCG , LRG_288t3:c.2068_2070delinsCCG	NP_742054.1:p.Pro690=
XM_011516185.1:c.2788_2790delinsCCG	XP_011514487.1:p.Pro930=
XM_011516185.2:c.2788_2790delinsCCG	XP_011514487.1:p.Pro930=
XM_017012195.1:c.2938_2940delinsCCG	XP_016867684.1:p.Pro980=
XM_017012196.1:c.2911_2913delinsCCG	XP_016867685.1:p.Pro971=
NM_000238.4:c.3088_3090delinsCCG MANE Select	NP_000229.1:p.Pro1030=
NM_172057.3:c.2068_2070delinsCCG	NP_742054.1:p.Pro690=