Canonical Allele Identifier: CA289049360

Gene: NOS2

Linked Data

• dbSNP Id: rs923456201
• gnomAD v3: 17-27769537-G-T
• gnomAD v4: 17-27769537-G-T
• MyVariant Identifiers: chr17:g.26096563G>T (hg19) ; chr17:g.27769537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769537G>T , CM000679.2:g.27769537G>T	GRCh38
NC_000017.10:g.26096563G>T , CM000679.1:g.26096563G>T	GRCh37
NC_000017.9:g.23120690G>T	NCBI36
NG_011470.1:g.35993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2593C>A	ENSP00000513259.1:n.*2593C>A
ENST00000697338.1:c.1705C>A	ENSP00000513260.1:n.1705C>A
ENST00000697339.1:c.891C>A	ENSP00000513261.1:p.Phe297Leu
ENST00000697340.1:c.*574C>A	ENSP00000513262.1:n.*574C>A
ENST00000697341.1:n.1827C>A
ENST00000313735.11:c.1857C>A MANE Select	ENSP00000327251.6:p.Phe619Leu
ENST00000646938.1:c.1854C>A	ENSP00000494870.1:p.Phe618Leu
ENST00000313735.10:c.1857C>A	ENSP00000327251.6:p.Phe619Leu
ENST00000621962.1:c.1740C>A	ENSP00000482291.1:p.Phe580Leu
NM_000625.4:c.1857C>A MANE Select	NP_000616.3:p.Phe619Leu
XM_011524859.1:c.1857C>A	XP_011523161.1:p.Phe619Leu
XM_011524860.1:c.1854C>A	XP_011523162.1:p.Phe618Leu
XM_011524861.1:c.1857C>A	XP_011523163.1:p.Phe619Leu
XM_011524862.1:c.1191C>A	XP_011523164.1:p.Phe397Leu