Canonical Allele Identifier: CA625377075

Gene: NOS2

Linked Data

• dbSNP Id: rs1261297519
• gnomAD v2: 17-26096513-T-C
• gnomAD v3: 17-27769487-T-C
• gnomAD v4: 17-27769487-T-C
• MyVariant Identifiers: chr17:g.26096513T>C (hg19) ; chr17:g.27769487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769487T>C , CM000679.2:g.27769487T>C	GRCh38
NC_000017.10:g.26096513T>C , CM000679.1:g.26096513T>C	GRCh37
NC_000017.9:g.23120640T>C	NCBI36
NG_011470.1:g.36043A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*2595+48A>G	ENSP00000513259.1:n.*2595+48A>G
ENST00000697338.1:c.1707+48A>G	ENSP00000513260.1:n.1707+48A>G
ENST00000697339.1:c.893+48A>G	ENSP00000513261.1:n.893+48A>G
ENST00000697340.1:c.*576+48A>G	ENSP00000513262.1:n.*576+48A>G
ENST00000697341.1:n.1829+48A>G
ENST00000313735.11:c.1859+48A>G MANE Select	ENSP00000327251.6:n.1859+48A>G
ENST00000646938.1:c.1856+48A>G	ENSP00000494870.1:n.1856+48A>G
ENST00000313735.10:c.1859+48A>G	ENSP00000327251.6:n.1859+48A>G
ENST00000621962.1:c.1742+48A>G	ENSP00000482291.1:n.1742+48A>G
NM_000625.4:c.1859+48A>G MANE Select	NP_000616.3:n.1859+48A>G
XM_011524859.1:c.1859+48A>G	XP_011523161.1:n.1859+48A>G
XM_011524860.1:c.1856+48A>G	XP_011523162.1:n.1856+48A>G
XM_011524861.1:c.1859+48A>G	XP_011523163.1:n.1859+48A>G
XM_011524862.1:c.1193+48A>G	XP_011523164.1:n.1193+48A>G