Canonical Allele Identifier: CA395875325

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756612C>G (hg19) ; chr16:g.50722701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722701C>G , CM000678.2:g.50722701C>G	GRCh38
NC_000016.9:g.50756612C>G , CM000678.1:g.50756612C>G	GRCh37
NC_000016.8:g.49314113C>G	NCBI36
NG_007508.1:g.30563C>G , LRG_177:g.30563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7117C>G	ENSP00000493088.1:n.2382-7117C>G
ENST00000646677.2:c.*478C>G	ENSP00000496533.1:n.*478C>G
ENST00000697425.1:c.540C>G
ENST00000697426.1:c.428C>G
ENST00000697427.1:c.344C>G
ENST00000697428.1:n.2191C>G
ENST00000641284.1:c.2382-7117C>G	ENSP00000493088.1:n.2382-7117C>G
ENST00000646677.1:c.*478C>G	ENSP00000496533.1:n.*478C>G
ENST00000647318.2:c.2713C>G MANE Select	ENSP00000495993.1:p.Leu905Val
ENST00000300589.6:c.2794C>G	ENSP00000300589.2:p.Leu932Val
ENST00000524712.5:c.288C>G
ENST00000527052.5:c.260C>G
ENST00000529633.5:c.372C>G
ENST00000534057.1:c.428C>G
ENST00000534067.5:c.524C>G
NM_001293557.1:c.2713C>G	NP_001280486.1:p.Leu905Val
NM_022162.2:c.2794C>G	NP_071445.1:p.Leu932Val
XM_005256084.2:c.2713C>G	XP_005256141.1:p.Leu905Val
XM_006721242.2:c.2629C>G	XP_006721305.1:p.Leu877Val
XM_011523257.1:c.2290C>G	XP_011521559.1:p.Leu764Val
XM_011523258.1:c.2290C>G	XP_011521560.1:p.Leu764Val
XM_011523259.1:c.2128C>G	XP_011521561.1:p.Leu710Val
XR_429725.2:n.2635C>G
XR_429726.2:n.2551C>G
XR_933387.1:n.2831C>G
XM_005256084.4:c.2713C>G	XP_005256141.1:p.Leu905Val
XM_006721242.4:c.2629C>G	XP_006721305.1:p.Leu877Val
XM_011523259.2:c.2128C>G	XP_011521561.1:p.Leu710Val
XM_017023535.1:c.2221C>G	XP_016879024.1:p.Leu741Val
XM_017023536.1:c.2128C>G	XP_016879025.1:p.Leu710Val
XM_017023537.1:c.2128C>G	XP_016879026.1:p.Leu710Val
XM_017023538.1:c.2128C>G	XP_016879027.1:p.Leu710Val
XR_429725.3:n.2588C>G
XR_429726.3:n.2504C>G
XR_933387.2:n.2784C>G
NM_001293557.2:c.2713C>G	NP_001280486.1:p.Leu905Val
NM_001370466.1:c.2713C>G MANE Select	NP_001357395.1:p.Leu905Val
NM_022162.3:c.2794C>G	NP_071445.1:p.Leu932Val
NR_163434.1:n.2925C>G