Canonical Allele Identifier: CA398301471

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096583T>C (hg19) ; chr17:g.27769557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769557T>C , CM000679.2:g.27769557T>C	GRCh38
NC_000017.10:g.26096583T>C , CM000679.1:g.26096583T>C	GRCh37
NC_000017.9:g.23120710T>C	NCBI36
NG_011470.1:g.35973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2573A>G	ENSP00000513259.1:n.*2573A>G
ENST00000697338.1:c.1685A>G	ENSP00000513260.1:n.1685A>G
ENST00000697339.1:c.871A>G	ENSP00000513261.1:p.Lys291Glu
ENST00000697340.1:c.*554A>G	ENSP00000513262.1:n.*554A>G
ENST00000697341.1:n.1807A>G
ENST00000313735.11:c.1837A>G MANE Select	ENSP00000327251.6:p.Lys613Glu
ENST00000646938.1:c.1834A>G	ENSP00000494870.1:p.Lys612Glu
ENST00000313735.10:c.1837A>G	ENSP00000327251.6:p.Lys613Glu
ENST00000621962.1:c.1720A>G	ENSP00000482291.1:p.Lys574Glu
NM_000625.4:c.1837A>G MANE Select	NP_000616.3:p.Lys613Glu
XM_011524859.1:c.1837A>G	XP_011523161.1:p.Lys613Glu
XM_011524860.1:c.1834A>G	XP_011523162.1:p.Lys612Glu
XM_011524861.1:c.1837A>G	XP_011523163.1:p.Lys613Glu
XM_011524862.1:c.1171A>G	XP_011523164.1:p.Lys391Glu