Canonical Allele Identifier: CA398301454
Gene: NOS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27769554C>G , CM000679.2:g.27769554C>G GRCh38
NC_000017.10:g.26096580C>G , CM000679.1:g.26096580C>G GRCh37
NC_000017.9:g.23120707C>G NCBI36
NG_011470.1:g.35976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*2576G>C ENSP00000513259.1:n.*2576G>C
ENST00000697338.1:c.1688G>C ENSP00000513260.1:n.1688G>C
ENST00000697339.1:c.874G>C ENSP00000513261.1:p.Glu292Gln
ENST00000697340.1:c.*557G>C ENSP00000513262.1:n.*557G>C
ENST00000697341.1:n.1810G>C
ENST00000313735.11:c.1840G>C MANE Select ENSP00000327251.6:p.Glu614Gln
ENST00000646938.1:c.1837G>C ENSP00000494870.1:p.Glu613Gln
ENST00000313735.10:c.1840G>C ENSP00000327251.6:p.Glu614Gln
ENST00000621962.1:c.1723G>C ENSP00000482291.1:p.Glu575Gln
NM_000625.4:c.1840G>C MANE Select NP_000616.3:p.Glu614Gln
XM_011524859.1:c.1840G>C XP_011523161.1:p.Glu614Gln
XM_011524860.1:c.1837G>C XP_011523162.1:p.Glu613Gln
XM_011524861.1:c.1840G>C XP_011523163.1:p.Glu614Gln
XM_011524862.1:c.1174G>C XP_011523164.1:p.Glu392Gln