Canonical Allele Identifier: CA398301467

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096582T>A (hg19) ; chr17:g.27769556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769556T>A , CM000679.2:g.27769556T>A	GRCh38
NC_000017.10:g.26096582T>A , CM000679.1:g.26096582T>A	GRCh37
NC_000017.9:g.23120709T>A	NCBI36
NG_011470.1:g.35974A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2574A>T	ENSP00000513259.1:n.*2574A>T
ENST00000697338.1:c.1686A>T	ENSP00000513260.1:n.1686A>T
ENST00000697339.1:c.872A>T	ENSP00000513261.1:p.Lys291Ile
ENST00000697340.1:c.*555A>T	ENSP00000513262.1:n.*555A>T
ENST00000697341.1:n.1808A>T
ENST00000313735.11:c.1838A>T MANE Select	ENSP00000327251.6:p.Lys613Ile
ENST00000646938.1:c.1835A>T	ENSP00000494870.1:p.Lys612Ile
ENST00000313735.10:c.1838A>T	ENSP00000327251.6:p.Lys613Ile
ENST00000621962.1:c.1721A>T	ENSP00000482291.1:p.Lys574Ile
NM_000625.4:c.1838A>T MANE Select	NP_000616.3:p.Lys613Ile
XM_011524859.1:c.1838A>T	XP_011523161.1:p.Lys613Ile
XM_011524860.1:c.1835A>T	XP_011523162.1:p.Lys612Ile
XM_011524861.1:c.1838A>T	XP_011523163.1:p.Lys613Ile
XM_011524862.1:c.1172A>T	XP_011523164.1:p.Lys391Ile