Canonical Allele Identifier: CA498760936

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096608T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769582T>C , CM000679.2:g.27769582T>C	GRCh38
NC_000017.10:g.26096608T>C , CM000679.1:g.26096608T>C	GRCh37
NC_000017.9:g.23120735T>C	NCBI36
NG_011470.1:g.35948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2548A>G	ENSP00000513259.1:n.*2548A>G
ENST00000697338.1:c.1660A>G	ENSP00000513260.1:n.1660A>G
ENST00000697339.1:c.846A>G	ENSP00000513261.1:p.Lys282=
ENST00000697340.1:c.*529A>G	ENSP00000513262.1:n.*529A>G
ENST00000697341.1:n.1782A>G
ENST00000313735.11:c.1812A>G MANE Select	ENSP00000327251.6:p.Lys604=
ENST00000646938.1:c.1809A>G	ENSP00000494870.1:p.Lys603=
ENST00000313735.10:c.1812A>G	ENSP00000327251.6:p.Lys604=
ENST00000621962.1:c.1695A>G	ENSP00000482291.1:p.Lys565=
NM_000625.4:c.1812A>G MANE Select	NP_000616.3:p.Lys604=
XM_011524859.1:c.1812A>G	XP_011523161.1:p.Lys604=
XM_011524860.1:c.1809A>G	XP_011523162.1:p.Lys603=
XM_011524861.1:c.1812A>G	XP_011523163.1:p.Lys604=
XM_011524862.1:c.1146A>G	XP_011523164.1:p.Lys382=