Canonical Allele Identifier: CA398301503

Gene: NOS2

Linked Data

• dbSNP Id: rs1908421369
• gnomAD v3: 17-27769563-T-C
• gnomAD v4: 17-27769563-T-C
• MyVariant Identifiers: chr17:g.26096589T>C (hg19) ; chr17:g.27769563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769563T>C , CM000679.2:g.27769563T>C	GRCh38
NC_000017.10:g.26096589T>C , CM000679.1:g.26096589T>C	GRCh37
NC_000017.9:g.23120716T>C	NCBI36
NG_011470.1:g.35967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2567A>G	ENSP00000513259.1:n.*2567A>G
ENST00000697338.1:c.1679A>G	ENSP00000513260.1:n.1679A>G
ENST00000697339.1:c.865A>G	ENSP00000513261.1:p.Met289Val
ENST00000697340.1:c.*548A>G	ENSP00000513262.1:n.*548A>G
ENST00000697341.1:n.1801A>G
ENST00000313735.11:c.1831A>G MANE Select	ENSP00000327251.6:p.Met611Val
ENST00000646938.1:c.1828A>G	ENSP00000494870.1:p.Met610Val
ENST00000313735.10:c.1831A>G	ENSP00000327251.6:p.Met611Val
ENST00000621962.1:c.1714A>G	ENSP00000482291.1:p.Met572Val
NM_000625.4:c.1831A>G MANE Select	NP_000616.3:p.Met611Val
XM_011524859.1:c.1831A>G	XP_011523161.1:p.Met611Val
XM_011524860.1:c.1828A>G	XP_011523162.1:p.Met610Val
XM_011524861.1:c.1831A>G	XP_011523163.1:p.Met611Val
XM_011524862.1:c.1165A>G	XP_011523164.1:p.Met389Val