Canonical Allele Identifier: CA395875088

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756557C>G (hg19) ; chr16:g.50722646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722646C>G , CM000678.2:g.50722646C>G	GRCh38
NC_000016.9:g.50756557C>G , CM000678.1:g.50756557C>G	GRCh37
NC_000016.8:g.49314058C>G	NCBI36
NG_007508.1:g.30508C>G , LRG_177:g.30508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7172C>G	ENSP00000493088.1:n.2382-7172C>G
ENST00000646677.2:c.*423C>G	ENSP00000496533.1:n.*423C>G
ENST00000697425.1:c.485C>G
ENST00000697426.1:c.373C>G
ENST00000697427.1:c.289C>G
ENST00000697428.1:n.2136C>G
ENST00000641284.1:c.2382-7172C>G	ENSP00000493088.1:n.2382-7172C>G
ENST00000646677.1:c.*423C>G	ENSP00000496533.1:n.*423C>G
ENST00000647318.2:c.2658C>G MANE Select	ENSP00000495993.1:p.Asp886Glu
ENST00000300589.6:c.2739C>G	ENSP00000300589.2:p.Asp913Glu
ENST00000524712.5:c.233C>G
ENST00000527052.5:c.205C>G
ENST00000529633.5:c.317C>G
ENST00000534057.1:c.373C>G
ENST00000534067.5:c.469C>G
NM_001293557.1:c.2658C>G	NP_001280486.1:p.Asp886Glu
NM_022162.2:c.2739C>G	NP_071445.1:p.Asp913Glu
XM_005256084.2:c.2658C>G	XP_005256141.1:p.Asp886Glu
XM_006721242.2:c.2574C>G	XP_006721305.1:p.Asp858Glu
XM_011523257.1:c.2235C>G	XP_011521559.1:p.Asp745Glu
XM_011523258.1:c.2235C>G	XP_011521560.1:p.Asp745Glu
XM_011523259.1:c.2073C>G	XP_011521561.1:p.Asp691Glu
XR_429725.2:n.2580C>G
XR_429726.2:n.2496C>G
XR_933387.1:n.2776C>G
XM_005256084.4:c.2658C>G	XP_005256141.1:p.Asp886Glu
XM_006721242.4:c.2574C>G	XP_006721305.1:p.Asp858Glu
XM_011523259.2:c.2073C>G	XP_011521561.1:p.Asp691Glu
XM_017023535.1:c.2166C>G	XP_016879024.1:p.Asp722Glu
XM_017023536.1:c.2073C>G	XP_016879025.1:p.Asp691Glu
XM_017023537.1:c.2073C>G	XP_016879026.1:p.Asp691Glu
XM_017023538.1:c.2073C>G	XP_016879027.1:p.Asp691Glu
XR_429725.3:n.2533C>G
XR_429726.3:n.2449C>G
XR_933387.2:n.2729C>G
NM_001293557.2:c.2658C>G	NP_001280486.1:p.Asp886Glu
NM_001370466.1:c.2658C>G MANE Select	NP_001357395.1:p.Asp886Glu
NM_022162.3:c.2739C>G	NP_071445.1:p.Asp913Glu
NR_163434.1:n.2870C>G