Canonical Allele Identifier: CA398308838

Gene: NOS2

Linked Data

• gnomAD v4: 17-27782015-C-A
• MyVariant Identifiers: chr17:g.26109041C>A (hg19) ; chr17:g.27782015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782015C>A , CM000679.2:g.27782015C>A	GRCh38
NC_000017.10:g.26109041C>A , CM000679.1:g.26109041C>A	GRCh37
NC_000017.9:g.23133168C>A	NCBI36
NG_011470.1:g.23515G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*168G>T	ENSP00000513259.1:n.*168G>T
ENST00000697338.1:c.570G>T	ENSP00000513260.1:n.570G>T
ENST00000697339.1:c.315+6794G>T	ENSP00000513261.1:n.315+6794G>T
ENST00000697340.1:c.719G>T	ENSP00000513262.1:p.Arg240Met
ENST00000697341.1:n.692G>T
ENST00000313735.11:c.722G>T MANE Select	ENSP00000327251.6:p.Arg241Met
ENST00000646938.1:c.719G>T	ENSP00000494870.1:p.Arg240Met
ENST00000313735.10:c.722G>T	ENSP00000327251.6:p.Arg241Met
ENST00000621962.1:c.722G>T	ENSP00000482291.1:p.Arg241Met
NM_000625.4:c.722G>T MANE Select	NP_000616.3:p.Arg241Met
XM_011524859.1:c.722G>T	XP_011523161.1:p.Arg241Met
XM_011524860.1:c.719G>T	XP_011523162.1:p.Arg240Met
XM_011524861.1:c.722G>T	XP_011523163.1:p.Arg241Met
XM_011524862.1:c.56G>T	XP_011523164.1:p.Arg19Met