Canonical Allele Identifier: CA398309057

Gene: NOS2

Linked Data

• dbSNP Id: rs1908865751
• MyVariant Identifiers: chr17:g.26109079G>T (hg19) ; chr17:g.27782053G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782053G>T , CM000679.2:g.27782053G>T	GRCh38
NC_000017.10:g.26109079G>T , CM000679.1:g.26109079G>T	GRCh37
NC_000017.9:g.23133206G>T	NCBI36
NG_011470.1:g.23477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*130C>A	ENSP00000513259.1:n.*130C>A
ENST00000697338.1:c.532C>A	ENSP00000513260.1:n.532C>A
ENST00000697339.1:c.315+6756C>A	ENSP00000513261.1:n.315+6756C>A
ENST00000697340.1:c.681C>A	ENSP00000513262.1:p.Cys227Ter
ENST00000697341.1:n.654C>A
ENST00000313735.11:c.684C>A MANE Select	ENSP00000327251.6:p.Cys228Ter
ENST00000646938.1:c.681C>A	ENSP00000494870.1:p.Cys227Ter
ENST00000313735.10:c.684C>A	ENSP00000327251.6:p.Cys228Ter
ENST00000621962.1:c.684C>A	ENSP00000482291.1:p.Cys228Ter
NM_000625.4:c.684C>A MANE Select	NP_000616.3:p.Cys228Ter
XM_011524859.1:c.684C>A	XP_011523161.1:p.Cys228Ter
XM_011524860.1:c.681C>A	XP_011523162.1:p.Cys227Ter
XM_011524861.1:c.684C>A	XP_011523163.1:p.Cys228Ter
XM_011524862.1:c.18C>A	XP_011523164.1:p.Cys6Ter