Canonical Allele Identifier: CA8454984

Gene: NOS2

Linked Data

• dbSNP Id: rs766310430
• ExAC: 17:26109047 T / G
• gnomAD v2: 17-26109047-T-G
• MyVariant Identifiers: chr17:g.26109047T>G (hg19) ; chr17:g.27782021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782021T>G , CM000679.2:g.27782021T>G	GRCh38
NC_000017.10:g.26109047T>G , CM000679.1:g.26109047T>G	GRCh37
NC_000017.9:g.23133174T>G	NCBI36
NG_011470.1:g.23509A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*162A>C	ENSP00000513259.1:n.*162A>C
ENST00000697338.1:c.564A>C	ENSP00000513260.1:n.564A>C
ENST00000697339.1:c.315+6788A>C	ENSP00000513261.1:n.315+6788A>C
ENST00000697340.1:c.713A>C	ENSP00000513262.1:p.Asn238Thr
ENST00000697341.1:n.686A>C
ENST00000313735.11:c.716A>C MANE Select	ENSP00000327251.6:p.Asn239Thr
ENST00000646938.1:c.713A>C	ENSP00000494870.1:p.Asn238Thr
ENST00000313735.10:c.716A>C	ENSP00000327251.6:p.Asn239Thr
ENST00000621962.1:c.716A>C	ENSP00000482291.1:p.Asn239Thr
NM_000625.4:c.716A>C MANE Select	NP_000616.3:p.Asn239Thr
XM_011524859.1:c.716A>C	XP_011523161.1:p.Asn239Thr
XM_011524860.1:c.713A>C	XP_011523162.1:p.Asn238Thr
XM_011524861.1:c.716A>C	XP_011523163.1:p.Asn239Thr
XM_011524862.1:c.50A>C	XP_011523164.1:p.Asn17Thr