Canonical Allele Identifier: CA398301507

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096590G>T (hg19) ; chr17:g.27769564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769564G>T , CM000679.2:g.27769564G>T	GRCh38
NC_000017.10:g.26096590G>T , CM000679.1:g.26096590G>T	GRCh37
NC_000017.9:g.23120717G>T	NCBI36
NG_011470.1:g.35966C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2566C>A	ENSP00000513259.1:n.*2566C>A
ENST00000697338.1:c.1678C>A	ENSP00000513260.1:n.1678C>A
ENST00000697339.1:c.864C>A	ENSP00000513261.1:p.Phe288Leu
ENST00000697340.1:c.*547C>A	ENSP00000513262.1:n.*547C>A
ENST00000697341.1:n.1800C>A
ENST00000313735.11:c.1830C>A MANE Select	ENSP00000327251.6:p.Phe610Leu
ENST00000646938.1:c.1827C>A	ENSP00000494870.1:p.Phe609Leu
ENST00000313735.10:c.1830C>A	ENSP00000327251.6:p.Phe610Leu
ENST00000621962.1:c.1713C>A	ENSP00000482291.1:p.Phe571Leu
NM_000625.4:c.1830C>A MANE Select	NP_000616.3:p.Phe610Leu
XM_011524859.1:c.1830C>A	XP_011523161.1:p.Phe610Leu
XM_011524860.1:c.1827C>A	XP_011523162.1:p.Phe609Leu
XM_011524861.1:c.1830C>A	XP_011523163.1:p.Phe610Leu
XM_011524862.1:c.1164C>A	XP_011523164.1:p.Phe388Leu