Canonical Allele Identifier: CA369861947

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654584A>T (hg19) ; chr7:g.150957496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957496A>T , CM000669.2:g.150957496A>T	GRCh38
NC_000007.13:g.150654584A>T , CM000669.1:g.150654584A>T	GRCh37
NC_000007.12:g.150285517A>T	NCBI36
NG_008916.1:g.25431T>A , LRG_288:g.25431T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1756T>A
ENST00000262186.10:c.923T>A MANE Select	ENSP00000262186.5:p.Met308Lys
ENST00000262186.9:c.923T>A	ENSP00000262186.5:p.Met308Lys
ENST00000430723.4:c.575T>A	ENSP00000387657.4:p.Met192Lys
ENST00000532957.5:n.1146T>A
NM_000238.3:c.923T>A , LRG_288t1:c.923T>A	NP_000229.1:p.Met308Lys
NM_172056.2:c.923T>A , LRG_288t2:c.923T>A	NP_742053.1:p.Met308Lys
XM_011516185.1:c.623T>A	XP_011514487.1:p.Met208Lys
XM_011516186.1:c.923T>A	XP_011514488.1:p.Met308Lys
XM_011516185.2:c.623T>A	XP_011514487.1:p.Met208Lys
XM_011516186.3:c.923T>A	XP_011514488.1:p.Met308Lys
XM_017012195.1:c.773T>A	XP_016867684.1:p.Met258Lys
XM_017012196.1:c.746T>A	XP_016867685.1:p.Met249Lys
NM_000238.4:c.923T>A MANE Select	NP_000229.1:p.Met308Lys