Canonical Allele Identifier: CA398308864

Gene: NOS2

Linked Data

• gnomAD v4: 17-27782018-A-T
• MyVariant Identifiers: chr17:g.26109044A>T (hg19) ; chr17:g.27782018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782018A>T , CM000679.2:g.27782018A>T	GRCh38
NC_000017.10:g.26109044A>T , CM000679.1:g.26109044A>T	GRCh37
NC_000017.9:g.23133171A>T	NCBI36
NG_011470.1:g.23512T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*165T>A	ENSP00000513259.1:n.*165T>A
ENST00000697338.1:c.567T>A	ENSP00000513260.1:n.567T>A
ENST00000697339.1:c.315+6791T>A	ENSP00000513261.1:n.315+6791T>A
ENST00000697340.1:c.716T>A	ENSP00000513262.1:p.Ile239Asn
ENST00000697341.1:n.689T>A
ENST00000313735.11:c.719T>A MANE Select	ENSP00000327251.6:p.Ile240Asn
ENST00000646938.1:c.716T>A	ENSP00000494870.1:p.Ile239Asn
ENST00000313735.10:c.719T>A	ENSP00000327251.6:p.Ile240Asn
ENST00000621962.1:c.719T>A	ENSP00000482291.1:p.Ile240Asn
NM_000625.4:c.719T>A MANE Select	NP_000616.3:p.Ile240Asn
XM_011524859.1:c.719T>A	XP_011523161.1:p.Ile240Asn
XM_011524860.1:c.716T>A	XP_011523162.1:p.Ile239Asn
XM_011524861.1:c.719T>A	XP_011523163.1:p.Ile240Asn
XM_011524862.1:c.53T>A	XP_011523164.1:p.Ile18Asn