Canonical Allele Identifier: CA498770623
Gene: NOS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.26109042T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27782016T>G , CM000679.2:g.27782016T>G GRCh38
NC_000017.10:g.26109042T>G , CM000679.1:g.26109042T>G GRCh37
NC_000017.9:g.23133169T>G NCBI36
NG_011470.1:g.23514A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697337.1:c.*167A>C ENSP00000513259.1:n.*167A>C
ENST00000697338.1:c.569A>C ENSP00000513260.1:n.569A>C
ENST00000697339.1:c.315+6793A>C ENSP00000513261.1:n.315+6793A>C
ENST00000697340.1:c.718A>C ENSP00000513262.1:p.Arg240=
ENST00000697341.1:n.691A>C
ENST00000313735.11:c.721A>C MANE Select ENSP00000327251.6:p.Arg241=
ENST00000646938.1:c.718A>C ENSP00000494870.1:p.Arg240=
ENST00000313735.10:c.721A>C ENSP00000327251.6:p.Arg241=
ENST00000621962.1:c.721A>C ENSP00000482291.1:p.Arg241=
NM_000625.4:c.721A>C MANE Select NP_000616.3:p.Arg241=
XM_011524859.1:c.721A>C XP_011523161.1:p.Arg241=
XM_011524860.1:c.718A>C XP_011523162.1:p.Arg240=
XM_011524861.1:c.721A>C XP_011523163.1:p.Arg241=
XM_011524862.1:c.55A>C XP_011523164.1:p.Arg19=