Canonical Allele Identifier: CA369863365

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655519A>T (hg19) ; chr7:g.150958431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958431A>T , CM000669.2:g.150958431A>T	GRCh38
NC_000007.13:g.150655519A>T , CM000669.1:g.150655519A>T	GRCh37
NC_000007.12:g.150286452A>T	NCBI36
NG_008916.1:g.24496T>A , LRG_288:g.24496T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1377T>A
ENST00000262186.10:c.544T>A MANE Select	ENSP00000262186.5:p.Ser182Thr
ENST00000262186.9:c.544T>A	ENSP00000262186.5:p.Ser182Thr
ENST00000430723.4:c.235-39T>A	ENSP00000387657.4:n.235-39T>A
ENST00000532957.5:n.767T>A
NM_000238.3:c.544T>A , LRG_288t1:c.544T>A	NP_000229.1:p.Ser182Thr
NM_172056.2:c.544T>A , LRG_288t2:c.544T>A	NP_742053.1:p.Ser182Thr
XM_011516185.1:c.244T>A	XP_011514487.1:p.Ser82Thr
XM_011516186.1:c.544T>A	XP_011514488.1:p.Ser182Thr
XM_011516185.2:c.244T>A	XP_011514487.1:p.Ser82Thr
XM_011516186.3:c.544T>A	XP_011514488.1:p.Ser182Thr
XM_017012195.1:c.394T>A	XP_016867684.1:p.Ser132Thr
XM_017012196.1:c.367T>A	XP_016867685.1:p.Ser123Thr
NM_000238.4:c.544T>A MANE Select	NP_000229.1:p.Ser182Thr