Canonical Allele Identifier: CA625377087

Gene: NOS2

Linked Data

• dbSNP Id: rs1254708514
• gnomAD v2: 17-26096594-A-AGCTCAGCATGAAG
• gnomAD v4: 17-27769568-A-AGCTCAGCATGAAG
• MyVariant Identifiers: chr17:g.26096594_26096595insGCTCAGCATGAAG (hg19) ; chr17:g.27769568_27769569insGCTCAGCATGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769570_27769571insTCAGCATGAAGGC , CM000679.2:g.27769570_27769571insTCAGCATGAAGGC	GRCh38
NC_000017.10:g.26096596_26096597insTCAGCATGAAGGC , CM000679.1:g.26096596_26096597insTCAGCATGAAGGC	GRCh37
NC_000017.9:g.23120723_23120724insTCAGCATGAAGGC	NCBI36
NG_011470.1:g.35961_35962insCTTCATGCTGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2561_*2562insCTTCATGCTGAGC	ENSP00000513259.1:n.*2561_*2562insCTTCATGCTGAGC
ENST00000697338.1:c.1673_1674insCTTCATGCTGAGC	ENSP00000513260.1:n.1673_1674insCTTCATGCTGAGC
ENST00000697339.1:c.859_860insCTTCATGCTGAGC	ENSP00000513261.1:p.Leu287ProfsTer4
ENST00000697340.1:c.*542_*543insCTTCATGCTGAGC	ENSP00000513262.1:n.*542_*543insCTTCATGCTGAGC
ENST00000697341.1:n.1795_1796insCTTCATGCTGAGC
ENST00000313735.11:c.1825_1826insCTTCATGCTGAGC MANE Select	ENSP00000327251.6:p.Leu609ProfsTer4
ENST00000646938.1:c.1822_1823insCTTCATGCTGAGC	ENSP00000494870.1:p.Leu608ProfsTer4
ENST00000313735.10:c.1825_1826insCTTCATGCTGAGC	ENSP00000327251.6:p.Leu609ProfsTer4
ENST00000621962.1:c.1708_1709insCTTCATGCTGAGC	ENSP00000482291.1:p.Leu570ProfsTer4
NM_000625.4:c.1825_1826insCTTCATGCTGAGC MANE Select	NP_000616.3:p.Leu609ProfsTer4
XM_011524859.1:c.1825_1826insCTTCATGCTGAGC	XP_011523161.1:p.Leu609ProfsTer4
XM_011524860.1:c.1822_1823insCTTCATGCTGAGC	XP_011523162.1:p.Leu608ProfsTer4
XM_011524861.1:c.1825_1826insCTTCATGCTGAGC	XP_011523163.1:p.Leu609ProfsTer4
XM_011524862.1:c.1159_1160insCTTCATGCTGAGC	XP_011523164.1:p.Leu387ProfsTer4