Canonical Allele Identifier: CA727658919

Gene: NOS2

Linked Data

• dbSNP Id: rs1360954939
• gnomAD v3: 17-27797557-T-C
• gnomAD v4: 17-27797557-T-C
• MyVariant Identifiers: chr17:g.26124583T>C (hg19) ; chr17:g.27797557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27797557T>C , CM000679.2:g.27797557T>C	GRCh38
NC_000017.10:g.26124583T>C , CM000679.1:g.26124583T>C	GRCh37
NC_000017.9:g.23148710T>C	NCBI36
NG_011470.1:g.7973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.110+1143A>G	ENSP00000513259.1:n.110+1143A>G
ENST00000313735.11:c.110+1143A>G MANE Select	ENSP00000327251.6:n.110+1143A>G
ENST00000313735.10:c.110+1143A>G	ENSP00000327251.6:n.110+1143A>G
ENST00000621962.1:c.110+1143A>G	ENSP00000482291.1:n.110+1143A>G
NM_000625.4:c.110+1143A>G MANE Select	NP_000616.3:n.110+1143A>G
XM_011524859.1:c.110+1143A>G	XP_011523161.1:n.110+1143A>G
XM_011524861.1:c.110+1143A>G	XP_011523163.1:n.110+1143A>G