Canonical Allele Identifier: CA369857620

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648124A>T (hg19) ; chr7:g.150951036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951036A>T , CM000669.2:g.150951036A>T	GRCh38
NC_000007.13:g.150648124A>T , CM000669.1:g.150648124A>T	GRCh37
NC_000007.12:g.150279057A>T	NCBI36
NG_008916.1:g.31891T>A , LRG_288:g.31891T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1328T>A
ENST00000683359.1:n.154T>A
ENST00000684241.1:n.2863T>A
ENST00000262186.10:c.2030T>A MANE Select	ENSP00000262186.5:p.Met677Lys
ENST00000330883.9:c.1010T>A	ENSP00000328531.4:p.Met337Lys
ENST00000262186.9:c.2030T>A	ENSP00000262186.5:p.Met677Lys
ENST00000330883.8:c.1010T>A	ENSP00000328531.4:p.Met337Lys
ENST00000430723.4:c.1682T>A	ENSP00000387657.4:p.Met561Lys
ENST00000461280.1:n.1317T>A
ENST00000473610.5:n.1662T>A
ENST00000532957.5:n.2253T>A
NM_000238.3:c.2030T>A , LRG_288t1:c.2030T>A	NP_000229.1:p.Met677Lys
NM_001204798.1:c.1010T>A	NP_001191727.1:p.Met337Lys
NM_172056.2:c.2030T>A , LRG_288t2:c.2030T>A	NP_742053.1:p.Met677Lys
NM_172057.2:c.1010T>A , LRG_288t3:c.1010T>A	NP_742054.1:p.Met337Lys
XM_011516185.1:c.1730T>A	XP_011514487.1:p.Met577Lys
XM_011516186.1:c.2030T>A	XP_011514488.1:p.Met677Lys
XM_011516185.2:c.1730T>A	XP_011514487.1:p.Met577Lys
XM_011516186.3:c.2030T>A	XP_011514488.1:p.Met677Lys
XM_017012195.1:c.1880T>A	XP_016867684.1:p.Met627Lys
XM_017012196.1:c.1853T>A	XP_016867685.1:p.Met618Lys
NM_000238.4:c.2030T>A MANE Select	NP_000229.1:p.Met677Lys
NM_001204798.2:c.1010T>A	NP_001191727.1:p.Met337Lys
NM_172057.3:c.1010T>A	NP_742054.1:p.Met337Lys