Canonical Allele Identifier: CA398309260

Gene: NOS2

Linked Data

• gnomAD v4: 17-27782087-C-T
• MyVariant Identifiers: chr17:g.26109113C>T (hg19) ; chr17:g.27782087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782087C>T , CM000679.2:g.27782087C>T	GRCh38
NC_000017.10:g.26109113C>T , CM000679.1:g.26109113C>T	GRCh37
NC_000017.9:g.23133240C>T	NCBI36
NG_011470.1:g.23443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*96G>A	ENSP00000513259.1:n.*96G>A
ENST00000697338.1:c.498G>A	ENSP00000513260.1:n.498G>A
ENST00000697339.1:c.315+6722G>A	ENSP00000513261.1:n.315+6722G>A
ENST00000697340.1:c.647G>A	ENSP00000513262.1:p.Cys216Tyr
ENST00000697341.1:n.620G>A
ENST00000313735.11:c.650G>A MANE Select	ENSP00000327251.6:p.Cys217Tyr
ENST00000646938.1:c.647G>A	ENSP00000494870.1:p.Cys216Tyr
ENST00000313735.10:c.650G>A	ENSP00000327251.6:p.Cys217Tyr
ENST00000621962.1:c.650G>A	ENSP00000482291.1:p.Cys217Tyr
NM_000625.4:c.650G>A MANE Select	NP_000616.3:p.Cys217Tyr
XM_011524859.1:c.650G>A	XP_011523161.1:p.Cys217Tyr
XM_011524860.1:c.647G>A	XP_011523162.1:p.Cys216Tyr
XM_011524861.1:c.650G>A	XP_011523163.1:p.Cys217Tyr
XM_011524862.1:c.-17G>A	XP_011523164.1:n.-17G>A