Canonical Allele Identifier: CA8454402

Gene: NOS2

Linked Data

• dbSNP Id: rs746034121
• ExAC: 17:26092565 C / G
• gnomAD v2: 17-26092565-C-G
• gnomAD v4: 17-27765539-C-G
• MyVariant Identifiers: chr17:g.26092565C>G (hg19) ; chr17:g.27765539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27765539C>G , CM000679.2:g.27765539C>G	GRCh38
NC_000017.10:g.26092565C>G , CM000679.1:g.26092565C>G	GRCh37
NC_000017.9:g.23116692C>G	NCBI36
NG_011470.1:g.39991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+68G>C	ENSP00000513259.1:n.*3092+68G>C
ENST00000697338.1:c.2272G>C	ENSP00000513260.1:n.2272G>C
ENST00000697339.1:c.1390+68G>C	ENSP00000513261.1:n.1390+68G>C
ENST00000697340.1:c.*1141G>C	ENSP00000513262.1:n.*1141G>C
ENST00000697341.1:n.2394G>C
ENST00000313735.11:c.2424G>C MANE Select	ENSP00000327251.6:p.Glu808Asp
ENST00000646938.1:c.2421G>C	ENSP00000494870.1:p.Glu807Asp
ENST00000313735.10:c.2424G>C	ENSP00000327251.6:p.Glu808Asp
ENST00000621962.1:c.2307G>C	ENSP00000482291.1:p.Glu769Asp
NM_000625.4:c.2424G>C MANE Select	NP_000616.3:p.Glu808Asp
XM_011524859.1:c.2424G>C	XP_011523161.1:p.Glu808Asp
XM_011524860.1:c.2421G>C	XP_011523162.1:p.Glu807Asp
XM_011524861.1:c.2356+68G>C	XP_011523163.1:n.2356+68G>C
XM_011524862.1:c.1758G>C	XP_011523164.1:p.Glu586Asp