Canonical Allele Identifier: CA398301412

Gene: NOS2

Linked Data

• gnomAD v4: 17-27769547-T-G
• MyVariant Identifiers: chr17:g.26096573T>G (hg19) ; chr17:g.27769547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769547T>G , CM000679.2:g.27769547T>G	GRCh38
NC_000017.10:g.26096573T>G , CM000679.1:g.26096573T>G	GRCh37
NC_000017.9:g.23120700T>G	NCBI36
NG_011470.1:g.35983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2583A>C	ENSP00000513259.1:n.*2583A>C
ENST00000697338.1:c.1695A>C	ENSP00000513260.1:n.1695A>C
ENST00000697339.1:c.881A>C	ENSP00000513261.1:p.Asn294Thr
ENST00000697340.1:c.*564A>C	ENSP00000513262.1:n.*564A>C
ENST00000697341.1:n.1817A>C
ENST00000313735.11:c.1847A>C MANE Select	ENSP00000327251.6:p.Asn616Thr
ENST00000646938.1:c.1844A>C	ENSP00000494870.1:p.Asn615Thr
ENST00000313735.10:c.1847A>C	ENSP00000327251.6:p.Asn616Thr
ENST00000621962.1:c.1730A>C	ENSP00000482291.1:p.Asn577Thr
NM_000625.4:c.1847A>C MANE Select	NP_000616.3:p.Asn616Thr
XM_011524859.1:c.1847A>C	XP_011523161.1:p.Asn616Thr
XM_011524860.1:c.1844A>C	XP_011523162.1:p.Asn615Thr
XM_011524861.1:c.1847A>C	XP_011523163.1:p.Asn616Thr
XM_011524862.1:c.1181A>C	XP_011523164.1:p.Asn394Thr