Canonical Allele Identifier: CA8454978

Gene: NOS2

Linked Data

• dbSNP Id: rs768229119
• ExAC: 17:26109036 C / T
• gnomAD v2: 17-26109036-C-T
• gnomAD v3: 17-27782010-C-T
• gnomAD v4: 17-27782010-C-T
• MyVariant Identifiers: chr17:g.26109036C>T (hg19) ; chr17:g.27782010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782010C>T , CM000679.2:g.27782010C>T	GRCh38
NC_000017.10:g.26109036C>T , CM000679.1:g.26109036C>T	GRCh37
NC_000017.9:g.23133163C>T	NCBI36
NG_011470.1:g.23520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*168+5G>A	ENSP00000513259.1:n.*168+5G>A
ENST00000697338.1:c.570+5G>A	ENSP00000513260.1:n.570+5G>A
ENST00000697339.1:c.315+6799G>A	ENSP00000513261.1:n.315+6799G>A
ENST00000697340.1:c.719+5G>A	ENSP00000513262.1:n.719+5G>A
ENST00000697341.1:n.692+5G>A
ENST00000313735.11:c.722+5G>A MANE Select	ENSP00000327251.6:n.722+5G>A
ENST00000646938.1:c.719+5G>A	ENSP00000494870.1:n.719+5G>A
ENST00000313735.10:c.722+5G>A	ENSP00000327251.6:n.722+5G>A
ENST00000621962.1:c.722+5G>A	ENSP00000482291.1:n.722+5G>A
NM_000625.4:c.722+5G>A MANE Select	NP_000616.3:n.722+5G>A
XM_011524859.1:c.722+5G>A	XP_011523161.1:n.722+5G>A
XM_011524860.1:c.719+5G>A	XP_011523162.1:n.719+5G>A
XM_011524861.1:c.722+5G>A	XP_011523163.1:n.722+5G>A
XM_011524862.1:c.56+5G>A	XP_011523164.1:n.56+5G>A