Canonical Allele Identifier: CA369862947

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655407T>G (hg19) ; chr7:g.150958319T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958319T>G , CM000669.2:g.150958319T>G	GRCh38
NC_000007.13:g.150655407T>G , CM000669.1:g.150655407T>G	GRCh37
NC_000007.12:g.150286340T>G	NCBI36
NG_008916.1:g.24608A>C , LRG_288:g.24608A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1489A>C
ENST00000262186.10:c.656A>C MANE Select	ENSP00000262186.5:p.Asp219Ala
ENST00000262186.9:c.656A>C	ENSP00000262186.5:p.Asp219Ala
ENST00000430723.4:c.308A>C	ENSP00000387657.4:p.Asp103Ala
ENST00000532957.5:n.879A>C
NM_000238.3:c.656A>C , LRG_288t1:c.656A>C	NP_000229.1:p.Asp219Ala
NM_172056.2:c.656A>C , LRG_288t2:c.656A>C	NP_742053.1:p.Asp219Ala
XM_011516185.1:c.356A>C	XP_011514487.1:p.Asp119Ala
XM_011516186.1:c.656A>C	XP_011514488.1:p.Asp219Ala
XM_011516185.2:c.356A>C	XP_011514487.1:p.Asp119Ala
XM_011516186.3:c.656A>C	XP_011514488.1:p.Asp219Ala
XM_017012195.1:c.506A>C	XP_016867684.1:p.Asp169Ala
XM_017012196.1:c.479A>C	XP_016867685.1:p.Asp160Ala
NM_000238.4:c.656A>C MANE Select	NP_000229.1:p.Asp219Ala