Canonical Allele Identifier: CA289061787

Gene: NOS2

Linked Data

• dbSNP Id: rs766310430
• MyVariant Identifiers: chr17:g.26109047T>A (hg19) ; chr17:g.27782021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782021T>A , CM000679.2:g.27782021T>A	GRCh38
NC_000017.10:g.26109047T>A , CM000679.1:g.26109047T>A	GRCh37
NC_000017.9:g.23133174T>A	NCBI36
NG_011470.1:g.23509A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*162A>T	ENSP00000513259.1:n.*162A>T
ENST00000697338.1:c.564A>T	ENSP00000513260.1:n.564A>T
ENST00000697339.1:c.315+6788A>T	ENSP00000513261.1:n.315+6788A>T
ENST00000697340.1:c.713A>T	ENSP00000513262.1:p.Asn238Ile
ENST00000697341.1:n.686A>T
ENST00000313735.11:c.716A>T MANE Select	ENSP00000327251.6:p.Asn239Ile
ENST00000646938.1:c.713A>T	ENSP00000494870.1:p.Asn238Ile
ENST00000313735.10:c.716A>T	ENSP00000327251.6:p.Asn239Ile
ENST00000621962.1:c.716A>T	ENSP00000482291.1:p.Asn239Ile
NM_000625.4:c.716A>T MANE Select	NP_000616.3:p.Asn239Ile
XM_011524859.1:c.716A>T	XP_011523161.1:p.Asn239Ile
XM_011524860.1:c.713A>T	XP_011523162.1:p.Asn238Ile
XM_011524861.1:c.716A>T	XP_011523163.1:p.Asn239Ile
XM_011524862.1:c.50A>T	XP_011523164.1:p.Asn17Ile