Canonical Allele Identifier: CA395867275

Gene: NOD2

Linked Data

• dbSNP Id: rs1157758358
• gnomAD v2: 16-50744474-A-G
• gnomAD v4: 16-50710563-A-G
• MyVariant Identifiers: chr16:g.50744474A>G (hg19) ; chr16:g.50710563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710563A>G , CM000678.2:g.50710563A>G	GRCh38
NC_000016.9:g.50744474A>G , CM000678.1:g.50744474A>G	GRCh37
NC_000016.8:g.49301975A>G	NCBI36
NG_007508.1:g.18425A>G , LRG_177:g.18425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.571A>G	ENSP00000493088.1:p.Thr191Ala
ENST00000646677.2:c.571A>G	ENSP00000496533.1:p.Thr191Ala
ENST00000641284.1:c.571A>G	ENSP00000493088.1:p.Thr191Ala
ENST00000646677.1:c.571A>G	ENSP00000496533.1:p.Thr191Ala
ENST00000647318.2:c.571A>G MANE Select	ENSP00000495993.1:p.Thr191Ala
ENST00000300589.6:c.652A>G	ENSP00000300589.2:p.Thr218Ala
ENST00000526417.6:n.712A>G
ENST00000527070.5:c.*1267A>G	ENSP00000435149.1:n.*1267A>G
ENST00000532206.1:n.650A>G
NM_001293557.1:c.571A>G	NP_001280486.1:p.Thr191Ala
NM_022162.2:c.652A>G	NP_071445.1:p.Thr218Ala
XM_005256084.2:c.571A>G	XP_005256141.1:p.Thr191Ala
XM_006721242.2:c.571A>G	XP_006721305.1:p.Thr191Ala
XM_006721243.2:c.571A>G	XP_006721306.1:p.Thr191Ala
XM_011523257.1:c.148A>G	XP_011521559.1:p.Thr50Ala
XM_011523258.1:c.148A>G	XP_011521560.1:p.Thr50Ala
XM_011523259.1:c.-15A>G	XP_011521561.1:n.-15A>G
XM_011523260.1:c.571A>G	XP_011521562.1:p.Thr191Ala
XM_011523261.1:c.571A>G	XP_011521563.1:p.Thr191Ala
XR_429725.2:n.661A>G
XR_429726.2:n.661A>G
XR_933387.1:n.661A>G
XM_005256084.4:c.571A>G	XP_005256141.1:p.Thr191Ala
XM_006721242.4:c.571A>G	XP_006721305.1:p.Thr191Ala
XM_006721243.4:c.571A>G	XP_006721306.1:p.Thr191Ala
XM_011523259.2:c.-15A>G	XP_011521561.1:n.-15A>G
XM_011523260.3:c.571A>G	XP_011521562.1:p.Thr191Ala
XM_011523261.2:c.571A>G	XP_011521563.1:p.Thr191Ala
XM_017023535.1:c.79A>G	XP_016879024.1:p.Thr27Ala
XM_017023536.1:c.-15A>G	XP_016879025.1:n.-15A>G
XM_017023537.1:c.-15A>G	XP_016879026.1:n.-15A>G
XM_017023538.1:c.-15A>G	XP_016879027.1:n.-15A>G
XR_429725.3:n.614A>G
XR_429726.3:n.614A>G
XR_933387.2:n.614A>G
NM_001293557.2:c.571A>G	NP_001280486.1:p.Thr191Ala
NM_001370466.1:c.571A>G MANE Select	NP_001357395.1:p.Thr191Ala
NM_022162.3:c.652A>G	NP_071445.1:p.Thr218Ala
NR_163434.1:n.636A>G