Canonical Allele Identifier: CA398301592
Gene: NOS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27769583T>G , CM000679.2:g.27769583T>G GRCh38
NC_000017.10:g.26096609T>G , CM000679.1:g.26096609T>G GRCh37
NC_000017.9:g.23120736T>G NCBI36
NG_011470.1:g.35947A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*2547A>C ENSP00000513259.1:n.*2547A>C
ENST00000697338.1:c.1659A>C ENSP00000513260.1:n.1659A>C
ENST00000697339.1:c.845A>C ENSP00000513261.1:p.Lys282Thr
ENST00000697340.1:c.*528A>C ENSP00000513262.1:n.*528A>C
ENST00000697341.1:n.1781A>C
ENST00000313735.11:c.1811A>C MANE Select ENSP00000327251.6:p.Lys604Thr
ENST00000646938.1:c.1808A>C ENSP00000494870.1:p.Lys603Thr
ENST00000313735.10:c.1811A>C ENSP00000327251.6:p.Lys604Thr
ENST00000621962.1:c.1694A>C ENSP00000482291.1:p.Lys565Thr
NM_000625.4:c.1811A>C MANE Select NP_000616.3:p.Lys604Thr
XM_011524859.1:c.1811A>C XP_011523161.1:p.Lys604Thr
XM_011524860.1:c.1808A>C XP_011523162.1:p.Lys603Thr
XM_011524861.1:c.1811A>C XP_011523163.1:p.Lys604Thr
XM_011524862.1:c.1145A>C XP_011523164.1:p.Lys382Thr