Canonical Allele Identifier: CA398301529

Gene: NOS2

Linked Data

• gnomAD v4: 17-27769569-G-A
• MyVariant Identifiers: chr17:g.26096595G>A (hg19) ; chr17:g.27769569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769569G>A , CM000679.2:g.27769569G>A	GRCh38
NC_000017.10:g.26096595G>A , CM000679.1:g.26096595G>A	GRCh37
NC_000017.9:g.23120722G>A	NCBI36
NG_011470.1:g.35961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2561C>T	ENSP00000513259.1:n.*2561C>T
ENST00000697338.1:c.1673C>T	ENSP00000513260.1:n.1673C>T
ENST00000697339.1:c.859C>T	ENSP00000513261.1:p.Leu287Phe
ENST00000697340.1:c.*542C>T	ENSP00000513262.1:n.*542C>T
ENST00000697341.1:n.1795C>T
ENST00000313735.11:c.1825C>T MANE Select	ENSP00000327251.6:p.Leu609Phe
ENST00000646938.1:c.1822C>T	ENSP00000494870.1:p.Leu608Phe
ENST00000313735.10:c.1825C>T	ENSP00000327251.6:p.Leu609Phe
ENST00000621962.1:c.1708C>T	ENSP00000482291.1:p.Leu570Phe
NM_000625.4:c.1825C>T MANE Select	NP_000616.3:p.Leu609Phe
XM_011524859.1:c.1825C>T	XP_011523161.1:p.Leu609Phe
XM_011524860.1:c.1822C>T	XP_011523162.1:p.Leu608Phe
XM_011524861.1:c.1825C>T	XP_011523163.1:p.Leu609Phe
XM_011524862.1:c.1159C>T	XP_011523164.1:p.Leu387Phe