Canonical Allele Identifier: CA498760855

Gene: NOS2

Linked Data

• dbSNP Id: rs1317067625
• gnomAD v2: 17-26096586-G-A
• gnomAD v4: 17-27769560-G-A
• MyVariant Identifiers: chr17:g.26096586G>A (hg19) ; chr17:g.27769560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769560G>A , CM000679.2:g.27769560G>A	GRCh38
NC_000017.10:g.26096586G>A , CM000679.1:g.26096586G>A	GRCh37
NC_000017.9:g.23120713G>A	NCBI36
NG_011470.1:g.35970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2570C>T	ENSP00000513259.1:n.*2570C>T
ENST00000697338.1:c.1682C>T	ENSP00000513260.1:n.1682C>T
ENST00000697339.1:c.868C>T	ENSP00000513261.1:p.Leu290=
ENST00000697340.1:c.*551C>T	ENSP00000513262.1:n.*551C>T
ENST00000697341.1:n.1804C>T
ENST00000313735.11:c.1834C>T MANE Select	ENSP00000327251.6:p.Leu612=
ENST00000646938.1:c.1831C>T	ENSP00000494870.1:p.Leu611=
ENST00000313735.10:c.1834C>T	ENSP00000327251.6:p.Leu612=
ENST00000621962.1:c.1717C>T	ENSP00000482291.1:p.Leu573=
NM_000625.4:c.1834C>T MANE Select	NP_000616.3:p.Leu612=
XM_011524859.1:c.1834C>T	XP_011523161.1:p.Leu612=
XM_011524860.1:c.1831C>T	XP_011523162.1:p.Leu611=
XM_011524861.1:c.1834C>T	XP_011523163.1:p.Leu612=
XM_011524862.1:c.1168C>T	XP_011523164.1:p.Leu390=