Canonical Allele Identifier: CA289042707

Gene: NOS2

Linked Data

• dbSNP Id: rs200978943
• gnomAD v2: 17-26091988-GCT-G
• gnomAD v3: 17-27764962-GCT-G
• gnomAD v4: 17-27764962-GCT-G
• MyVariant Identifiers: chr17:g.26091989_26091990del (hg19) ; chr17:g.27764963_27764964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27764965_27764966del , CM000679.2:g.27764965_27764966del	GRCh38
NC_000017.10:g.26091991_26091992del , CM000679.1:g.26091991_26091992del	GRCh37
NC_000017.9:g.23116118_23116119del	NCBI36
NG_011470.1:g.40566_40567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*3092+643_*3092+644del	ENSP00000513259.1:n.*3092+643_*3092+644del
ENST00000697338.1:c.2276+571_2276+572del	ENSP00000513260.1:n.2276+571_2276+572del
ENST00000697339.1:c.1390+643_1390+644del	ENSP00000513261.1:n.1390+643_1390+644del
ENST00000697340.1:c.*1145+571_*1145+572del	ENSP00000513262.1:n.*1145+571_*1145+572del
ENST00000697341.1:n.2398+571_2398+572del
ENST00000313735.11:c.2428+571_2428+572del MANE Select	ENSP00000327251.6:n.2428+571_2428+572del
ENST00000646938.1:c.2425+571_2425+572del	ENSP00000494870.1:n.2425+571_2425+572del
ENST00000313735.10:c.2428+571_2428+572del	ENSP00000327251.6:n.2428+571_2428+572del
ENST00000621962.1:c.2311+571_2311+572del	ENSP00000482291.1:n.2311+571_2311+572del
NM_000625.4:c.2428+571_2428+572del MANE Select	NP_000616.3:n.2428+571_2428+572del
XM_011524859.1:c.2428+571_2428+572del	XP_011523161.1:n.2428+571_2428+572del
XM_011524860.1:c.2425+571_2425+572del	XP_011523162.1:n.2425+571_2425+572del
XM_011524861.1:c.2356+643_2356+644del	XP_011523163.1:n.2356+643_2356+644del
XM_011524862.1:c.1762+571_1762+572del	XP_011523164.1:n.1762+571_1762+572del