Canonical Allele Identifier: CA8454609

Gene: NOS2

Linked Data

• dbSNP Id: rs759255233
• ExAC: 17:26096596 C / T
• gnomAD v2: 17-26096596-C-T
• gnomAD v4: 17-27769570-C-T
• MyVariant Identifiers: chr17:g.26096596C>T (hg19) ; chr17:g.27769570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769570C>T , CM000679.2:g.27769570C>T	GRCh38
NC_000017.10:g.26096596C>T , CM000679.1:g.26096596C>T	GRCh37
NC_000017.9:g.23120723C>T	NCBI36
NG_011470.1:g.35960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2560G>A	ENSP00000513259.1:n.*2560G>A
ENST00000697338.1:c.1672G>A	ENSP00000513260.1:n.1672G>A
ENST00000697339.1:c.858G>A	ENSP00000513261.1:p.Ser286=
ENST00000697340.1:c.*541G>A	ENSP00000513262.1:n.*541G>A
ENST00000697341.1:n.1794G>A
ENST00000313735.11:c.1824G>A MANE Select	ENSP00000327251.6:p.Ser608=
ENST00000646938.1:c.1821G>A	ENSP00000494870.1:p.Ser607=
ENST00000313735.10:c.1824G>A	ENSP00000327251.6:p.Ser608=
ENST00000621962.1:c.1707G>A	ENSP00000482291.1:p.Ser569=
NM_000625.4:c.1824G>A MANE Select	NP_000616.3:p.Ser608=
XM_011524859.1:c.1824G>A	XP_011523161.1:p.Ser608=
XM_011524860.1:c.1821G>A	XP_011523162.1:p.Ser607=
XM_011524861.1:c.1824G>A	XP_011523163.1:p.Ser608=
XM_011524862.1:c.1158G>A	XP_011523164.1:p.Ser386=