Canonical Allele Identifier: CA398301384

Gene: NOS2

Linked Data

• gnomAD v4: 17-27769542-T-C
• MyVariant Identifiers: chr17:g.26096568T>C (hg19) ; chr17:g.27769542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769542T>C , CM000679.2:g.27769542T>C	GRCh38
NC_000017.10:g.26096568T>C , CM000679.1:g.26096568T>C	GRCh37
NC_000017.9:g.23120695T>C	NCBI36
NG_011470.1:g.35988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2588A>G	ENSP00000513259.1:n.*2588A>G
ENST00000697338.1:c.1700A>G	ENSP00000513260.1:n.1700A>G
ENST00000697339.1:c.886A>G	ENSP00000513261.1:p.Lys296Glu
ENST00000697340.1:c.*569A>G	ENSP00000513262.1:n.*569A>G
ENST00000697341.1:n.1822A>G
ENST00000313735.11:c.1852A>G MANE Select	ENSP00000327251.6:p.Lys618Glu
ENST00000646938.1:c.1849A>G	ENSP00000494870.1:p.Lys617Glu
ENST00000313735.10:c.1852A>G	ENSP00000327251.6:p.Lys618Glu
ENST00000621962.1:c.1735A>G	ENSP00000482291.1:p.Lys579Glu
NM_000625.4:c.1852A>G MANE Select	NP_000616.3:p.Lys618Glu
XM_011524859.1:c.1852A>G	XP_011523161.1:p.Lys618Glu
XM_011524860.1:c.1849A>G	XP_011523162.1:p.Lys617Glu
XM_011524861.1:c.1852A>G	XP_011523163.1:p.Lys618Glu
XM_011524862.1:c.1186A>G	XP_011523164.1:p.Lys396Glu