Canonical Allele Identifier: CA369858098

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648709T>G (hg19) ; chr7:g.150951621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951621T>G , CM000669.2:g.150951621T>G	GRCh38
NC_000007.13:g.150648709T>G , CM000669.1:g.150648709T>G	GRCh37
NC_000007.12:g.150279642T>G	NCBI36
NG_008916.1:g.31306A>C , LRG_288:g.31306A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1070A>C
ENST00000684241.1:n.2605A>C
ENST00000262186.10:c.1772A>C MANE Select	ENSP00000262186.5:p.Asp591Ala
ENST00000330883.9:c.752A>C	ENSP00000328531.4:p.Asp251Ala
ENST00000262186.9:c.1772A>C	ENSP00000262186.5:p.Asp591Ala
ENST00000330883.8:c.752A>C	ENSP00000328531.4:p.Asp251Ala
ENST00000430723.4:c.1424A>C	ENSP00000387657.4:p.Asp475Ala
ENST00000461280.1:n.1059A>C
ENST00000473610.5:n.1077A>C
ENST00000532957.5:n.1995A>C
NM_000238.3:c.1772A>C , LRG_288t1:c.1772A>C	NP_000229.1:p.Asp591Ala
NM_001204798.1:c.752A>C	NP_001191727.1:p.Asp251Ala
NM_172056.2:c.1772A>C , LRG_288t2:c.1772A>C	NP_742053.1:p.Asp591Ala
NM_172057.2:c.752A>C , LRG_288t3:c.752A>C	NP_742054.1:p.Asp251Ala
XM_011516185.1:c.1472A>C	XP_011514487.1:p.Asp491Ala
XM_011516186.1:c.1772A>C	XP_011514488.1:p.Asp591Ala
XM_011516185.2:c.1472A>C	XP_011514487.1:p.Asp491Ala
XM_011516186.3:c.1772A>C	XP_011514488.1:p.Asp591Ala
XM_017012195.1:c.1622A>C	XP_016867684.1:p.Asp541Ala
XM_017012196.1:c.1595A>C	XP_016867685.1:p.Asp532Ala
NM_000238.4:c.1772A>C MANE Select	NP_000229.1:p.Asp591Ala
NM_001204798.2:c.752A>C	NP_001191727.1:p.Asp251Ala
NM_172057.3:c.752A>C	NP_742054.1:p.Asp251Ala