Canonical Allele Identifier: CA395875092

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756558G>C (hg19) ; chr16:g.50722647G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722647G>C , CM000678.2:g.50722647G>C	GRCh38
NC_000016.9:g.50756558G>C , CM000678.1:g.50756558G>C	GRCh37
NC_000016.8:g.49314059G>C	NCBI36
NG_007508.1:g.30509G>C , LRG_177:g.30509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7171G>C	ENSP00000493088.1:n.2382-7171G>C
ENST00000646677.2:c.*424G>C	ENSP00000496533.1:n.*424G>C
ENST00000697425.1:c.486G>C
ENST00000697426.1:c.374G>C
ENST00000697427.1:c.290G>C
ENST00000697428.1:n.2137G>C
ENST00000641284.1:c.2382-7171G>C	ENSP00000493088.1:n.2382-7171G>C
ENST00000646677.1:c.*424G>C	ENSP00000496533.1:n.*424G>C
ENST00000647318.2:c.2659G>C MANE Select	ENSP00000495993.1:p.Glu887Gln
ENST00000300589.6:c.2740G>C	ENSP00000300589.2:p.Glu914Gln
ENST00000524712.5:c.234G>C
ENST00000527052.5:c.206G>C
ENST00000529633.5:c.318G>C
ENST00000534057.1:c.374G>C
ENST00000534067.5:c.470G>C
NM_001293557.1:c.2659G>C	NP_001280486.1:p.Glu887Gln
NM_022162.2:c.2740G>C	NP_071445.1:p.Glu914Gln
XM_005256084.2:c.2659G>C	XP_005256141.1:p.Glu887Gln
XM_006721242.2:c.2575G>C	XP_006721305.1:p.Glu859Gln
XM_011523257.1:c.2236G>C	XP_011521559.1:p.Glu746Gln
XM_011523258.1:c.2236G>C	XP_011521560.1:p.Glu746Gln
XM_011523259.1:c.2074G>C	XP_011521561.1:p.Glu692Gln
XR_429725.2:n.2581G>C
XR_429726.2:n.2497G>C
XR_933387.1:n.2777G>C
XM_005256084.4:c.2659G>C	XP_005256141.1:p.Glu887Gln
XM_006721242.4:c.2575G>C	XP_006721305.1:p.Glu859Gln
XM_011523259.2:c.2074G>C	XP_011521561.1:p.Glu692Gln
XM_017023535.1:c.2167G>C	XP_016879024.1:p.Glu723Gln
XM_017023536.1:c.2074G>C	XP_016879025.1:p.Glu692Gln
XM_017023537.1:c.2074G>C	XP_016879026.1:p.Glu692Gln
XM_017023538.1:c.2074G>C	XP_016879027.1:p.Glu692Gln
XR_429725.3:n.2534G>C
XR_429726.3:n.2450G>C
XR_933387.2:n.2730G>C
NM_001293557.2:c.2659G>C	NP_001280486.1:p.Glu887Gln
NM_001370466.1:c.2659G>C MANE Select	NP_001357395.1:p.Glu887Gln
NM_022162.3:c.2740G>C	NP_071445.1:p.Glu914Gln
NR_163434.1:n.2871G>C