Canonical Allele Identifier: CA281262296

Gene: NOD2

Linked Data

• dbSNP Id: rs367630707
• gnomAD v2: 16-50745034-G-C
• gnomAD v3: 16-50711123-G-C
• gnomAD v4: 16-50711123-G-C
• MyVariant Identifiers: chr16:g.50745034G>C (hg19) ; chr16:g.50711123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711123G>C , CM000678.2:g.50711123G>C	GRCh38
NC_000016.9:g.50745034G>C , CM000678.1:g.50745034G>C	GRCh37
NC_000016.8:g.49302535G>C	NCBI36
NG_007508.1:g.18985G>C , LRG_177:g.18985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1131G>C	ENSP00000493088.1:p.Gln377His
ENST00000646677.2:c.1131G>C	ENSP00000496533.1:p.Gln377His
ENST00000641284.1:c.1131G>C	ENSP00000493088.1:p.Gln377His
ENST00000646677.1:c.1131G>C	ENSP00000496533.1:p.Gln377His
ENST00000647318.2:c.1131G>C MANE Select	ENSP00000495993.1:p.Gln377His
ENST00000300589.6:c.1212G>C	ENSP00000300589.2:p.Gln404His
NM_001293557.1:c.1131G>C	NP_001280486.1:p.Gln377His
NM_022162.2:c.1212G>C	NP_071445.1:p.Gln404His
XM_005256084.2:c.1131G>C	XP_005256141.1:p.Gln377His
XM_006721242.2:c.1131G>C	XP_006721305.1:p.Gln377His
XM_006721243.2:c.1131G>C	XP_006721306.1:p.Gln377His
XM_011523257.1:c.708G>C	XP_011521559.1:p.Gln236His
XM_011523258.1:c.708G>C	XP_011521560.1:p.Gln236His
XM_011523259.1:c.546G>C	XP_011521561.1:p.Gln182His
XM_011523260.1:c.1131G>C	XP_011521562.1:p.Gln377His
XM_011523261.1:c.1131G>C	XP_011521563.1:p.Gln377His
XR_429725.2:n.1221G>C
XR_429726.2:n.1221G>C
XR_933387.1:n.1221G>C
XM_005256084.4:c.1131G>C	XP_005256141.1:p.Gln377His
XM_006721242.4:c.1131G>C	XP_006721305.1:p.Gln377His
XM_006721243.4:c.1131G>C	XP_006721306.1:p.Gln377His
XM_011523259.2:c.546G>C	XP_011521561.1:p.Gln182His
XM_011523260.3:c.1131G>C	XP_011521562.1:p.Gln377His
XM_011523261.2:c.1131G>C	XP_011521563.1:p.Gln377His
XM_017023535.1:c.639G>C	XP_016879024.1:p.Gln213His
XM_017023536.1:c.546G>C	XP_016879025.1:p.Gln182His
XM_017023537.1:c.546G>C	XP_016879026.1:p.Gln182His
XM_017023538.1:c.546G>C	XP_016879027.1:p.Gln182His
XR_429725.3:n.1174G>C
XR_429726.3:n.1174G>C
XR_933387.2:n.1174G>C
NM_001293557.2:c.1131G>C	NP_001280486.1:p.Gln377His
NM_001370466.1:c.1131G>C MANE Select	NP_001357395.1:p.Gln377His
NM_022162.3:c.1212G>C	NP_071445.1:p.Gln404His
NR_163434.1:n.1196G>C