Canonical Allele Identifier: CA727708968

Gene: NOS2

Linked Data

• dbSNP Id: rs1433172521
• gnomAD v3: 17-27772191-G-A
• gnomAD v4: 17-27772191-G-A
• MyVariant Identifiers: chr17:g.26099217G>A (hg19) ; chr17:g.27772191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27772191G>A , CM000679.2:g.27772191G>A	GRCh38
NC_000017.10:g.26099217G>A , CM000679.1:g.26099217G>A	GRCh37
NC_000017.9:g.23123344G>A	NCBI36
NG_011470.1:g.33339C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*1267C>T	ENSP00000513259.1:n.*1267C>T
ENST00000697338.1:c.1552+117C>T	ENSP00000513260.1:n.1552+117C>T
ENST00000697339.1:c.738+117C>T	ENSP00000513261.1:n.738+117C>T
ENST00000697340.1:c.*421+117C>T	ENSP00000513262.1:n.*421+117C>T
ENST00000697341.1:n.1674+117C>T
ENST00000313735.11:c.1704+117C>T MANE Select	ENSP00000327251.6:n.1704+117C>T
ENST00000646938.1:c.1701+117C>T	ENSP00000494870.1:n.1701+117C>T
ENST00000313735.10:c.1704+117C>T	ENSP00000327251.6:n.1704+117C>T
ENST00000621962.1:c.1587+117C>T	ENSP00000482291.1:n.1587+117C>T
NM_000625.4:c.1704+117C>T MANE Select	NP_000616.3:n.1704+117C>T
XM_011524859.1:c.1704+117C>T	XP_011523161.1:n.1704+117C>T
XM_011524860.1:c.1701+117C>T	XP_011523162.1:n.1701+117C>T
XM_011524861.1:c.1704+117C>T	XP_011523163.1:n.1704+117C>T
XM_011524862.1:c.1038+117C>T	XP_011523164.1:n.1038+117C>T