Canonical Allele Identifier: CA395875254

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756597C>G (hg19) ; chr16:g.50722686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722686C>G , CM000678.2:g.50722686C>G	GRCh38
NC_000016.9:g.50756597C>G , CM000678.1:g.50756597C>G	GRCh37
NC_000016.8:g.49314098C>G	NCBI36
NG_007508.1:g.30548C>G , LRG_177:g.30548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7132C>G	ENSP00000493088.1:n.2382-7132C>G
ENST00000646677.2:c.*463C>G	ENSP00000496533.1:n.*463C>G
ENST00000697425.1:c.525C>G
ENST00000697426.1:c.413C>G
ENST00000697427.1:c.329C>G
ENST00000697428.1:n.2176C>G
ENST00000641284.1:c.2382-7132C>G	ENSP00000493088.1:n.2382-7132C>G
ENST00000646677.1:c.*463C>G	ENSP00000496533.1:n.*463C>G
ENST00000647318.2:c.2698C>G MANE Select	ENSP00000495993.1:p.Gln900Glu
ENST00000300589.6:c.2779C>G	ENSP00000300589.2:p.Gln927Glu
ENST00000524712.5:c.273C>G
ENST00000527052.5:c.245C>G
ENST00000529633.5:c.357C>G
ENST00000534057.1:c.413C>G
ENST00000534067.5:c.509C>G
NM_001293557.1:c.2698C>G	NP_001280486.1:p.Gln900Glu
NM_022162.2:c.2779C>G	NP_071445.1:p.Gln927Glu
XM_005256084.2:c.2698C>G	XP_005256141.1:p.Gln900Glu
XM_006721242.2:c.2614C>G	XP_006721305.1:p.Gln872Glu
XM_011523257.1:c.2275C>G	XP_011521559.1:p.Gln759Glu
XM_011523258.1:c.2275C>G	XP_011521560.1:p.Gln759Glu
XM_011523259.1:c.2113C>G	XP_011521561.1:p.Gln705Glu
XR_429725.2:n.2620C>G
XR_429726.2:n.2536C>G
XR_933387.1:n.2816C>G
XM_005256084.4:c.2698C>G	XP_005256141.1:p.Gln900Glu
XM_006721242.4:c.2614C>G	XP_006721305.1:p.Gln872Glu
XM_011523259.2:c.2113C>G	XP_011521561.1:p.Gln705Glu
XM_017023535.1:c.2206C>G	XP_016879024.1:p.Gln736Glu
XM_017023536.1:c.2113C>G	XP_016879025.1:p.Gln705Glu
XM_017023537.1:c.2113C>G	XP_016879026.1:p.Gln705Glu
XM_017023538.1:c.2113C>G	XP_016879027.1:p.Gln705Glu
XR_429725.3:n.2573C>G
XR_429726.3:n.2489C>G
XR_933387.2:n.2769C>G
NM_001293557.2:c.2698C>G	NP_001280486.1:p.Gln900Glu
NM_001370466.1:c.2698C>G MANE Select	NP_001357395.1:p.Gln900Glu
NM_022162.3:c.2779C>G	NP_071445.1:p.Gln927Glu
NR_163434.1:n.2910C>G