Canonical Allele Identifier: CA498760925

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096605C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769579C>A , CM000679.2:g.27769579C>A	GRCh38
NC_000017.10:g.26096605C>A , CM000679.1:g.26096605C>A	GRCh37
NC_000017.9:g.23120732C>A	NCBI36
NG_011470.1:g.35951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2551G>T	ENSP00000513259.1:n.*2551G>T
ENST00000697338.1:c.1663G>T	ENSP00000513260.1:n.1663G>T
ENST00000697339.1:c.849G>T	ENSP00000513261.1:p.Leu283=
ENST00000697340.1:c.*532G>T	ENSP00000513262.1:n.*532G>T
ENST00000697341.1:n.1785G>T
ENST00000313735.11:c.1815G>T MANE Select	ENSP00000327251.6:p.Leu605=
ENST00000646938.1:c.1812G>T	ENSP00000494870.1:p.Leu604=
ENST00000313735.10:c.1815G>T	ENSP00000327251.6:p.Leu605=
ENST00000621962.1:c.1698G>T	ENSP00000482291.1:p.Leu566=
NM_000625.4:c.1815G>T MANE Select	NP_000616.3:p.Leu605=
XM_011524859.1:c.1815G>T	XP_011523161.1:p.Leu605=
XM_011524860.1:c.1812G>T	XP_011523162.1:p.Leu604=
XM_011524861.1:c.1815G>T	XP_011523163.1:p.Leu605=
XM_011524862.1:c.1149G>T	XP_011523164.1:p.Leu383=