Canonical Allele Identifier: CA8454315

Gene: NOS2

Linked Data

• ClinVar Variation Id: 2687955
• ClinVar RCV Id: RCV003488864 ; RCV003980959
• dbSNP Id: rs1060826
• ExAC: 17:26089867 T / C
• gnomAD v2: 17-26089867-T-C
• gnomAD v3: 17-27762841-T-C
• gnomAD v4: 17-27762841-T-C
• MyVariant Identifiers: chr17:g.26089867T>C (hg19) ; chr17:g.27762841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27762841T>C , CM000679.2:g.27762841T>C	GRCh38
NC_000017.10:g.26089867T>C , CM000679.1:g.26089867T>C	GRCh37
NC_000017.9:g.23113994T>C	NCBI36
NG_011470.1:g.42689A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*3421A>G	ENSP00000513259.1:n.*3421A>G
ENST00000697338.1:c.2605A>G	ENSP00000513260.1:n.2605A>G
ENST00000697339.1:c.1719A>G	ENSP00000513261.1:p.Thr573=
ENST00000697340.1:c.*1470A>G	ENSP00000513262.1:n.*1470A>G
ENST00000313735.11:c.2757A>G MANE Select	ENSP00000327251.6:p.Thr919=
ENST00000646938.1:c.2754A>G	ENSP00000494870.1:p.Thr918=
ENST00000313735.10:c.2757A>G	ENSP00000327251.6:p.Thr919=
ENST00000621962.1:c.2640A>G	ENSP00000482291.1:p.Thr880=
NM_000625.4:c.2757A>G MANE Select	NP_000616.3:p.Thr919=
XM_011524859.1:c.2757A>G	XP_011523161.1:p.Thr919=
XM_011524860.1:c.2754A>G	XP_011523162.1:p.Thr918=
XM_011524861.1:c.2685A>G	XP_011523163.1:p.Thr895=
XM_011524862.1:c.2091A>G	XP_011523164.1:p.Thr697=