Canonical Allele Identifier: CA369860200

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649857G>A (hg19) ; chr7:g.150952769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952769G>A , CM000669.2:g.150952769G>A	GRCh38
NC_000007.13:g.150649857G>A , CM000669.1:g.150649857G>A	GRCh37
NC_000007.12:g.150280790G>A	NCBI36
NG_008916.1:g.30158C>T , LRG_288:g.30158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.511C>T
ENST00000684116.1:n.106C>T
ENST00000684241.1:n.2046C>T
ENST00000262186.10:c.1213C>T MANE Select	ENSP00000262186.5:p.Pro405Ser
ENST00000330883.9:c.193C>T	ENSP00000328531.4:p.Pro65Ser
ENST00000262186.9:c.1213C>T	ENSP00000262186.5:p.Pro405Ser
ENST00000330883.8:c.193C>T	ENSP00000328531.4:p.Pro65Ser
ENST00000430723.4:c.865C>T	ENSP00000387657.4:p.Pro289Ser
ENST00000461280.1:n.500C>T
ENST00000473610.5:n.518C>T
ENST00000532957.5:n.1436C>T
NM_000238.3:c.1213C>T , LRG_288t1:c.1213C>T	NP_000229.1:p.Pro405Ser
NM_001204798.1:c.193C>T	NP_001191727.1:p.Pro65Ser
NM_172056.2:c.1213C>T , LRG_288t2:c.1213C>T	NP_742053.1:p.Pro405Ser
NM_172057.2:c.193C>T , LRG_288t3:c.193C>T	NP_742054.1:p.Pro65Ser
XM_011516185.1:c.913C>T	XP_011514487.1:p.Pro305Ser
XM_011516186.1:c.1213C>T	XP_011514488.1:p.Pro405Ser
XM_011516185.2:c.913C>T	XP_011514487.1:p.Pro305Ser
XM_011516186.3:c.1213C>T	XP_011514488.1:p.Pro405Ser
XM_017012195.1:c.1063C>T	XP_016867684.1:p.Pro355Ser
XM_017012196.1:c.1036C>T	XP_016867685.1:p.Pro346Ser
NM_000238.4:c.1213C>T MANE Select	NP_000229.1:p.Pro405Ser
NM_001204798.2:c.193C>T	NP_001191727.1:p.Pro65Ser
NM_172057.3:c.193C>T	NP_742054.1:p.Pro65Ser