Canonical Allele Identifier: CA982704459

Gene: NOS2

Linked Data

• gnomAD v3: 17-27765041-A-C
• gnomAD v4: 17-27765041-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27765041A>C , CM000679.2:g.27765041A>C	GRCh38
NC_000017.10:g.26092067A>C , CM000679.1:g.26092067A>C	GRCh37
NC_000017.9:g.23116194A>C	NCBI36
NG_011470.1:g.40489T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*3092+566T>G	ENSP00000513259.1:n.*3092+566T>G
ENST00000697338.1:c.2276+494T>G	ENSP00000513260.1:n.2276+494T>G
ENST00000697339.1:c.1390+566T>G	ENSP00000513261.1:n.1390+566T>G
ENST00000697340.1:c.*1145+494T>G	ENSP00000513262.1:n.*1145+494T>G
ENST00000697341.1:n.2398+494T>G
ENST00000313735.11:c.2428+494T>G MANE Select	ENSP00000327251.6:n.2428+494T>G
ENST00000646938.1:c.2425+494T>G	ENSP00000494870.1:n.2425+494T>G
ENST00000313735.10:c.2428+494T>G	ENSP00000327251.6:n.2428+494T>G
ENST00000621962.1:c.2311+494T>G	ENSP00000482291.1:n.2311+494T>G
NM_000625.4:c.2428+494T>G MANE Select	NP_000616.3:n.2428+494T>G
XM_011524859.1:c.2428+494T>G	XP_011523161.1:n.2428+494T>G
XM_011524860.1:c.2425+494T>G	XP_011523162.1:n.2425+494T>G
XM_011524861.1:c.2356+566T>G	XP_011523163.1:n.2356+566T>G
XM_011524862.1:c.1762+494T>G	XP_011523164.1:n.1762+494T>G