Canonical Allele Identifier: CA398298461

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26092566T>A (hg19) ; chr17:g.27765540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27765540T>A , CM000679.2:g.27765540T>A	GRCh38
NC_000017.10:g.26092566T>A , CM000679.1:g.26092566T>A	GRCh37
NC_000017.9:g.23116693T>A	NCBI36
NG_011470.1:g.39990A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*3092+67A>T	ENSP00000513259.1:n.*3092+67A>T
ENST00000697338.1:c.2271A>T	ENSP00000513260.1:n.2271A>T
ENST00000697339.1:c.1390+67A>T	ENSP00000513261.1:n.1390+67A>T
ENST00000697340.1:c.*1140A>T	ENSP00000513262.1:n.*1140A>T
ENST00000697341.1:n.2393A>T
ENST00000313735.11:c.2423A>T MANE Select	ENSP00000327251.6:p.Glu808Val
ENST00000646938.1:c.2420A>T	ENSP00000494870.1:p.Glu807Val
ENST00000313735.10:c.2423A>T	ENSP00000327251.6:p.Glu808Val
ENST00000621962.1:c.2306A>T	ENSP00000482291.1:p.Glu769Val
NM_000625.4:c.2423A>T MANE Select	NP_000616.3:p.Glu808Val
XM_011524859.1:c.2423A>T	XP_011523161.1:p.Glu808Val
XM_011524860.1:c.2420A>T	XP_011523162.1:p.Glu807Val
XM_011524861.1:c.2356+67A>T	XP_011523163.1:n.2356+67A>T
XM_011524862.1:c.1757A>T	XP_011523164.1:p.Glu586Val