Canonical Allele Identifier: CA8454315
Gene: NOS2 HGNC NCBI
COSMIC:
COSM1243439 (not active)
MyVariant.info:
GRCh38 chr17:g.27762841T>C
GRCh37 chr17:g.26089867T>C
gnomAD v2:
17:26089867 T / C
gnomAD v3:
17:27762841 T / C
gnomAD v4:
chr17-27762841-T-C
Joint Max Group AF 0.82249322 (SAS)
Genomes Max Group AF 0.81307388 (SAS)
Exomes Max Group AF 0.82191952 (SAS)
ClinVar RCV:
RCV003488864
RCV003980959
ClinVar Variation:
2687955
dbSNP:
1060826
JSON-LD

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=
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