Canonical Allele Identifier: CA8051956

Gene: NOD2

Linked Data

• dbSNP Id: rs142376491
• ExAC: 16:50756541 G / C
• gnomAD v2: 16-50756541-G-C
• gnomAD v3: 16-50722630-G-C
• gnomAD v4: 16-50722630-G-C
• MyVariant Identifiers: chr16:g.50756541G>C (hg19) ; chr16:g.50722630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722630G>C , CM000678.2:g.50722630G>C	GRCh38
NC_000016.9:g.50756541G>C , CM000678.1:g.50756541G>C	GRCh37
NC_000016.8:g.49314042G>C	NCBI36
NG_007508.1:g.30492G>C , LRG_177:g.30492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7188G>C	ENSP00000493088.1:n.2382-7188G>C
ENST00000646677.2:c.*407G>C	ENSP00000496533.1:n.*407G>C
ENST00000697425.1:c.469G>C
ENST00000697426.1:c.357G>C
ENST00000697427.1:c.273G>C
ENST00000697428.1:n.2120G>C
ENST00000641284.1:c.2382-7188G>C	ENSP00000493088.1:n.2382-7188G>C
ENST00000646677.1:c.*407G>C	ENSP00000496533.1:n.*407G>C
ENST00000647318.2:c.2642G>C MANE Select	ENSP00000495993.1:p.Gly881Ala
ENST00000300589.6:c.2723G>C	ENSP00000300589.2:p.Gly908Ala
ENST00000524712.5:c.217G>C
ENST00000527052.5:c.189G>C
ENST00000529633.5:c.301G>C
ENST00000534057.1:c.357G>C
ENST00000534067.5:c.453G>C
NM_001293557.1:c.2642G>C	NP_001280486.1:p.Gly881Ala
NM_022162.2:c.2723G>C	NP_071445.1:p.Gly908Ala
XM_005256084.2:c.2642G>C	XP_005256141.1:p.Gly881Ala
XM_006721242.2:c.2558G>C	XP_006721305.1:p.Gly853Ala
XM_011523257.1:c.2219G>C	XP_011521559.1:p.Gly740Ala
XM_011523258.1:c.2219G>C	XP_011521560.1:p.Gly740Ala
XM_011523259.1:c.2057G>C	XP_011521561.1:p.Gly686Ala
XR_429725.2:n.2564G>C
XR_429726.2:n.2480G>C
XR_933387.1:n.2760G>C
XM_005256084.4:c.2642G>C	XP_005256141.1:p.Gly881Ala
XM_006721242.4:c.2558G>C	XP_006721305.1:p.Gly853Ala
XM_011523259.2:c.2057G>C	XP_011521561.1:p.Gly686Ala
XM_017023535.1:c.2150G>C	XP_016879024.1:p.Gly717Ala
XM_017023536.1:c.2057G>C	XP_016879025.1:p.Gly686Ala
XM_017023537.1:c.2057G>C	XP_016879026.1:p.Gly686Ala
XM_017023538.1:c.2057G>C	XP_016879027.1:p.Gly686Ala
XR_429725.3:n.2517G>C
XR_429726.3:n.2433G>C
XR_933387.2:n.2713G>C
NM_001293557.2:c.2642G>C	NP_001280486.1:p.Gly881Ala
NM_001370466.1:c.2642G>C MANE Select	NP_001357395.1:p.Gly881Ala
NM_022162.3:c.2723G>C	NP_071445.1:p.Gly908Ala
NR_163434.1:n.2854G>C