Canonical Allele Identifier: CA398309145
Gene: NOS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27782067A>T , CM000679.2:g.27782067A>T GRCh38
NC_000017.10:g.26109093A>T , CM000679.1:g.26109093A>T GRCh37
NC_000017.9:g.23133220A>T NCBI36
NG_011470.1:g.23463T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*116T>A ENSP00000513259.1:n.*116T>A
ENST00000697338.1:c.518T>A ENSP00000513260.1:n.518T>A
ENST00000697339.1:c.315+6742T>A ENSP00000513261.1:n.315+6742T>A
ENST00000697340.1:c.667T>A ENSP00000513262.1:p.Phe223Ile
ENST00000697341.1:n.640T>A
ENST00000313735.11:c.670T>A MANE Select ENSP00000327251.6:p.Phe224Ile
ENST00000646938.1:c.667T>A ENSP00000494870.1:p.Phe223Ile
ENST00000313735.10:c.670T>A ENSP00000327251.6:p.Phe224Ile
ENST00000621962.1:c.670T>A ENSP00000482291.1:p.Phe224Ile
NM_000625.4:c.670T>A MANE Select NP_000616.3:p.Phe224Ile
XM_011524859.1:c.670T>A XP_011523161.1:p.Phe224Ile
XM_011524860.1:c.667T>A XP_011523162.1:p.Phe223Ile
XM_011524861.1:c.670T>A XP_011523163.1:p.Phe224Ile
XM_011524862.1:c.4T>A XP_011523164.1:p.Phe2Ile