Canonical Allele Identifier: CA169090225

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974712A>G , CM000669.2:g.150974712A>G	GRCh38
NC_000007.13:g.150671800A>G , CM000669.1:g.150671800A>G	GRCh37
NC_000007.12:g.150302733A>G	NCBI36
NG_008916.1:g.8215T>C , LRG_288:g.8215T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.306T>C MANE Select	NP_000229.1:p.Asp102=
ENST00000262186.10:c.306T>C MANE Select	ENSP00000262186.5:p.Asp102=
NM_000238.3:c.306T>C , LRG_288t1:c.306T>C	NP_000229.1:p.Asp102=
NM_172056.2:c.306T>C , LRG_288t2:c.306T>C	NP_742053.1:p.Asp102=
ENST00000262186.9:c.306T>C	ENSP00000262186.5:p.Asp102=
ENST00000430723.4:c.129T>C	ENSP00000387657.4:p.Asp43=
ENST00000532957.5:n.529T>C
XM_011516186.1:c.306T>C	XP_011514488.1:p.Asp102=
XM_011516186.3:c.306T>C	XP_011514488.1:p.Asp102=
XM_017012196.1:c.129T>C	XP_016867685.1:p.Asp43=