Canonical Allele Identifier: CA398301421

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096574T>G (hg19) ; chr17:g.27769548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769548T>G , CM000679.2:g.27769548T>G	GRCh38
NC_000017.10:g.26096574T>G , CM000679.1:g.26096574T>G	GRCh37
NC_000017.9:g.23120701T>G	NCBI36
NG_011470.1:g.35982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2582A>C	ENSP00000513259.1:n.*2582A>C
ENST00000697338.1:c.1694A>C	ENSP00000513260.1:n.1694A>C
ENST00000697339.1:c.880A>C	ENSP00000513261.1:p.Asn294His
ENST00000697340.1:c.*563A>C	ENSP00000513262.1:n.*563A>C
ENST00000697341.1:n.1816A>C
ENST00000313735.11:c.1846A>C MANE Select	ENSP00000327251.6:p.Asn616His
ENST00000646938.1:c.1843A>C	ENSP00000494870.1:p.Asn615His
ENST00000313735.10:c.1846A>C	ENSP00000327251.6:p.Asn616His
ENST00000621962.1:c.1729A>C	ENSP00000482291.1:p.Asn577His
NM_000625.4:c.1846A>C MANE Select	NP_000616.3:p.Asn616His
XM_011524859.1:c.1846A>C	XP_011523161.1:p.Asn616His
XM_011524860.1:c.1843A>C	XP_011523162.1:p.Asn615His
XM_011524861.1:c.1846A>C	XP_011523163.1:p.Asn616His
XM_011524862.1:c.1180A>C	XP_011523164.1:p.Asn394His