Canonical Allele Identifier: CA498760914

Gene: NOS2

Linked Data

• gnomAD v4: 17-27769576-C-T
• MyVariant Identifiers: chr17:g.26096602C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769576C>T , CM000679.2:g.27769576C>T	GRCh38
NC_000017.10:g.26096602C>T , CM000679.1:g.26096602C>T	GRCh37
NC_000017.9:g.23120729C>T	NCBI36
NG_011470.1:g.35954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2554G>A	ENSP00000513259.1:n.*2554G>A
ENST00000697338.1:c.1666G>A	ENSP00000513260.1:n.1666G>A
ENST00000697339.1:c.852G>A	ENSP00000513261.1:p.Lys284=
ENST00000697340.1:c.*535G>A	ENSP00000513262.1:n.*535G>A
ENST00000697341.1:n.1788G>A
ENST00000313735.11:c.1818G>A MANE Select	ENSP00000327251.6:p.Lys606=
ENST00000646938.1:c.1815G>A	ENSP00000494870.1:p.Lys605=
ENST00000313735.10:c.1818G>A	ENSP00000327251.6:p.Lys606=
ENST00000621962.1:c.1701G>A	ENSP00000482291.1:p.Lys567=
NM_000625.4:c.1818G>A MANE Select	NP_000616.3:p.Lys606=
XM_011524859.1:c.1818G>A	XP_011523161.1:p.Lys606=
XM_011524860.1:c.1815G>A	XP_011523162.1:p.Lys605=
XM_011524861.1:c.1818G>A	XP_011523163.1:p.Lys606=
XM_011524862.1:c.1152G>A	XP_011523164.1:p.Lys384=