Canonical Allele Identifier: CA398301360

Gene: NOS2

Linked Data

• dbSNP Id: rs1403292515
• MyVariant Identifiers: chr17:g.26096564A>T (hg19) ; chr17:g.27769538A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769538A>T , CM000679.2:g.27769538A>T	GRCh38
NC_000017.10:g.26096564A>T , CM000679.1:g.26096564A>T	GRCh37
NC_000017.9:g.23120691A>T	NCBI36
NG_011470.1:g.35992T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2592T>A	ENSP00000513259.1:n.*2592T>A
ENST00000697338.1:c.1704T>A	ENSP00000513260.1:n.1704T>A
ENST00000697339.1:c.890T>A	ENSP00000513261.1:p.Phe297Tyr
ENST00000697340.1:c.*573T>A	ENSP00000513262.1:n.*573T>A
ENST00000697341.1:n.1826T>A
ENST00000313735.11:c.1856T>A MANE Select	ENSP00000327251.6:p.Phe619Tyr
ENST00000646938.1:c.1853T>A	ENSP00000494870.1:p.Phe618Tyr
ENST00000313735.10:c.1856T>A	ENSP00000327251.6:p.Phe619Tyr
ENST00000621962.1:c.1739T>A	ENSP00000482291.1:p.Phe580Tyr
NM_000625.4:c.1856T>A MANE Select	NP_000616.3:p.Phe619Tyr
XM_011524859.1:c.1856T>A	XP_011523161.1:p.Phe619Tyr
XM_011524860.1:c.1853T>A	XP_011523162.1:p.Phe618Tyr
XM_011524861.1:c.1856T>A	XP_011523163.1:p.Phe619Tyr
XM_011524862.1:c.1190T>A	XP_011523164.1:p.Phe397Tyr