Canonical Allele Identifier: CA289040021

Gene: NOS2

Linked Data

• dbSNP Id: rs537347747
• gnomAD v2: 17-26088862-C-T
• gnomAD v3: 17-27761836-C-T
• gnomAD v4: 17-27761836-C-T
• MyVariant Identifiers: chr17:g.26088862C>T (hg19) ; chr17:g.27761836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27761836C>T , CM000679.2:g.27761836C>T	GRCh38
NC_000017.10:g.26088862C>T , CM000679.1:g.26088862C>T	GRCh37
NC_000017.9:g.23112989C>T	NCBI36
NG_011470.1:g.43694G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*3465-605G>A	ENSP00000513259.1:n.*3465-605G>A
ENST00000697338.1:c.2649-605G>A	ENSP00000513260.1:n.2649-605G>A
ENST00000697339.1:c.1763-605G>A	ENSP00000513261.1:n.1763-605G>A
ENST00000697340.1:c.*1514-605G>A	ENSP00000513262.1:n.*1514-605G>A
ENST00000313735.11:c.2801-605G>A MANE Select	ENSP00000327251.6:n.2801-605G>A
ENST00000646938.1:c.2798-605G>A	ENSP00000494870.1:n.2798-605G>A
ENST00000313735.10:c.2801-605G>A	ENSP00000327251.6:n.2801-605G>A
ENST00000621962.1:c.2684-605G>A	ENSP00000482291.1:n.2684-605G>A
NM_000625.4:c.2801-605G>A MANE Select	NP_000616.3:n.2801-605G>A
XM_011524859.1:c.2801-605G>A	XP_011523161.1:n.2801-605G>A
XM_011524860.1:c.2798-605G>A	XP_011523162.1:n.2798-605G>A
XM_011524861.1:c.2729-605G>A	XP_011523163.1:n.2729-605G>A
XM_011524862.1:c.2135-605G>A	XP_011523164.1:n.2135-605G>A