Canonical Allele Identifier: CA8454728
Gene: NOS2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.27773295A>G
GRCh37 chr17:g.26100321A>G
gnomAD v2:
17:26100321 A / G
gnomAD v3:
17:27773295 A / G
gnomAD v4:
chr17-27773295-A-G
Joint Max Group AF 0.80928985 (AFR)
Genomes Max Group AF 0.80140182 (AFR)
Exomes Max Group AF 0.81533128 (AFR)
ClinVar RCV:
RCV003488871
ClinVar Variation:
2687962
dbSNP:
2248814
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27773295A>G , CM000679.2:g.27773295A>G GRCh38
NC_000017.10:g.26100321A>G , CM000679.1:g.26100321A>G GRCh37
NC_000017.9:g.23124448A>G NCBI36
NG_011470.1:g.32235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*923-52T>C ENSP00000513259.1:n.*923-52T>C
ENST00000697338.1:c.1325-52T>C ENSP00000513260.1:n.1325-52T>C
ENST00000697339.1:c.511-52T>C ENSP00000513261.1:n.511-52T>C
ENST00000697340.1:c.*194-52T>C ENSP00000513262.1:n.*194-52T>C
ENST00000697341.1:n.1447-52T>C
ENST00000313735.11:c.1477-52T>C MANE Select ENSP00000327251.6:n.1477-52T>C
ENST00000646938.1:c.1474-52T>C ENSP00000494870.1:n.1474-52T>C
ENST00000313735.10:c.1477-52T>C ENSP00000327251.6:n.1477-52T>C
ENST00000621962.1:c.1360-52T>C ENSP00000482291.1:n.1360-52T>C
NM_000625.4:c.1477-52T>C MANE Select NP_000616.3:n.1477-52T>C
XM_011524859.1:c.1477-52T>C XP_011523161.1:n.1477-52T>C
XM_011524860.1:c.1474-52T>C XP_011523162.1:n.1474-52T>C
XM_011524861.1:c.1477-52T>C XP_011523163.1:n.1477-52T>C
XM_011524862.1:c.811-52T>C XP_011523164.1:n.811-52T>C
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