Canonical Allele Identifier: CA398308845

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26109042T>A (hg19) ; chr17:g.27782016T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*167A>T	ENSP00000513259.1:n.*167A>T
ENST00000697338.1:c.569A>T	ENSP00000513260.1:n.569A>T
ENST00000697339.1:c.315+6793A>T	ENSP00000513261.1:n.315+6793A>T
ENST00000697340.1:c.718A>T	ENSP00000513262.1:p.Arg240Trp
ENST00000697341.1:n.691A>T
ENST00000313735.11:c.721A>T MANE Select	ENSP00000327251.6:p.Arg241Trp
ENST00000646938.1:c.718A>T	ENSP00000494870.1:p.Arg240Trp
ENST00000313735.10:c.721A>T	ENSP00000327251.6:p.Arg241Trp
ENST00000621962.1:c.721A>T	ENSP00000482291.1:p.Arg241Trp
NM_000625.4:c.721A>T MANE Select	NP_000616.3:p.Arg241Trp
XM_011524859.1:c.721A>T	XP_011523161.1:p.Arg241Trp
XM_011524860.1:c.718A>T	XP_011523162.1:p.Arg240Trp
XM_011524861.1:c.721A>T	XP_011523163.1:p.Arg241Trp
XM_011524862.1:c.55A>T	XP_011523164.1:p.Arg19Trp