Canonical Allele Identifier: CA398301584

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096607G>C (hg19) ; chr17:g.27769581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769581G>C , CM000679.2:g.27769581G>C	GRCh38
NC_000017.10:g.26096607G>C , CM000679.1:g.26096607G>C	GRCh37
NC_000017.9:g.23120734G>C	NCBI36
NG_011470.1:g.35949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2549C>G	ENSP00000513259.1:n.*2549C>G
ENST00000697338.1:c.1661C>G	ENSP00000513260.1:n.1661C>G
ENST00000697339.1:c.847C>G	ENSP00000513261.1:p.Leu283Val
ENST00000697340.1:c.*530C>G	ENSP00000513262.1:n.*530C>G
ENST00000697341.1:n.1783C>G
ENST00000313735.11:c.1813C>G MANE Select	ENSP00000327251.6:p.Leu605Val
ENST00000646938.1:c.1810C>G	ENSP00000494870.1:p.Leu604Val
ENST00000313735.10:c.1813C>G	ENSP00000327251.6:p.Leu605Val
ENST00000621962.1:c.1696C>G	ENSP00000482291.1:p.Leu566Val
NM_000625.4:c.1813C>G MANE Select	NP_000616.3:p.Leu605Val
XM_011524859.1:c.1813C>G	XP_011523161.1:p.Leu605Val
XM_011524860.1:c.1810C>G	XP_011523162.1:p.Leu604Val
XM_011524861.1:c.1813C>G	XP_011523163.1:p.Leu605Val
XM_011524862.1:c.1147C>G	XP_011523164.1:p.Leu383Val