Canonical Allele Identifier: CA8051398

Gene: NOD2

Linked Data

• dbSNP Id: rs2066842
• ExAC: 16:50744624 C / A
• gnomAD v2: 16-50744624-C-A
• gnomAD v4: 16-50710713-C-A
• MyVariant Identifiers: chr16:g.50744624C>A (hg19) ; chr16:g.50710713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710713C>A , CM000678.2:g.50710713C>A	GRCh38
NC_000016.9:g.50744624C>A , CM000678.1:g.50744624C>A	GRCh37
NC_000016.8:g.49302125C>A	NCBI36
NG_007508.1:g.18575C>A , LRG_177:g.18575C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.721C>A	ENSP00000493088.1:p.Pro241Thr
ENST00000646677.2:c.721C>A	ENSP00000496533.1:p.Pro241Thr
ENST00000641284.1:c.721C>A	ENSP00000493088.1:p.Pro241Thr
ENST00000646677.1:c.721C>A	ENSP00000496533.1:p.Pro241Thr
ENST00000647318.2:c.721C>A MANE Select	ENSP00000495993.1:p.Pro241Thr
ENST00000300589.6:c.802C>A	ENSP00000300589.2:p.Pro268Thr
ENST00000526417.6:n.862C>A
ENST00000527070.5:c.*1417C>A	ENSP00000435149.1:n.*1417C>A
ENST00000532206.1:n.800C>A
NM_001293557.1:c.721C>A	NP_001280486.1:p.Pro241Thr
NM_022162.2:c.802C>A	NP_071445.1:p.Pro268Thr
XM_005256084.2:c.721C>A	XP_005256141.1:p.Pro241Thr
XM_006721242.2:c.721C>A	XP_006721305.1:p.Pro241Thr
XM_006721243.2:c.721C>A	XP_006721306.1:p.Pro241Thr
XM_011523257.1:c.298C>A	XP_011521559.1:p.Pro100Thr
XM_011523258.1:c.298C>A	XP_011521560.1:p.Pro100Thr
XM_011523259.1:c.136C>A	XP_011521561.1:p.Pro46Thr
XM_011523260.1:c.721C>A	XP_011521562.1:p.Pro241Thr
XM_011523261.1:c.721C>A	XP_011521563.1:p.Pro241Thr
XR_429725.2:n.811C>A
XR_429726.2:n.811C>A
XR_933387.1:n.811C>A
XM_005256084.4:c.721C>A	XP_005256141.1:p.Pro241Thr
XM_006721242.4:c.721C>A	XP_006721305.1:p.Pro241Thr
XM_006721243.4:c.721C>A	XP_006721306.1:p.Pro241Thr
XM_011523259.2:c.136C>A	XP_011521561.1:p.Pro46Thr
XM_011523260.3:c.721C>A	XP_011521562.1:p.Pro241Thr
XM_011523261.2:c.721C>A	XP_011521563.1:p.Pro241Thr
XM_017023535.1:c.229C>A	XP_016879024.1:p.Pro77Thr
XM_017023536.1:c.136C>A	XP_016879025.1:p.Pro46Thr
XM_017023537.1:c.136C>A	XP_016879026.1:p.Pro46Thr
XM_017023538.1:c.136C>A	XP_016879027.1:p.Pro46Thr
XR_429725.3:n.764C>A
XR_429726.3:n.764C>A
XR_933387.2:n.764C>A
NM_001293557.2:c.721C>A	NP_001280486.1:p.Pro241Thr
NM_001370466.1:c.721C>A MANE Select	NP_001357395.1:p.Pro241Thr
NM_022162.3:c.802C>A	NP_071445.1:p.Pro268Thr
NR_163434.1:n.786C>A