Canonical Allele Identifier: CA14246348
Gene: NOD2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs8057341

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50704069A>G , CM000678.2:g.50704069A>G GRCh38
NC_000016.9:g.50737980A>G , CM000678.1:g.50737980A>G GRCh37
NC_000016.8:g.49295481A>G NCBI36
NG_007508.1:g.11931A>G , LRG_177:g.11931A>G

Transcript Alleles

HGVS Amino-acid change
NM_001293557.1:c.460-3786A>G VV NP_001280486.1:p.=
NM_022162.2:c.541-3786A>G VV NP_071445.1:p.=
XM_005256084.2:c.460-3786A>G XP_005256141.1:p.=
XM_006721242.2:c.460-3786A>G XP_006721305.1:p.=
XM_006721243.2:c.460-3786A>G XP_006721306.1:p.=
XM_011523257.1:c.-37-3786A>G XP_011521559.1:p.=
XM_011523258.1:c.-37-3786A>G XP_011521560.1:p.=
XM_011523259.1:c.-21+4115A>G XP_011521561.1:p.=
XM_011523260.1:c.460-3786A>G XP_011521562.1:p.=
XM_011523261.1:c.460-3786A>G XP_011521563.1:p.=
XR_429725.2:n.550-3786A>G
XR_429726.2:n.550-3786A>G
XR_933387.1:n.550-3786A>G
XM_005256084.4:c.460-3786A>G XP_005256141.1:p.=
XM_006721242.4:c.460-3786A>G XP_006721305.1:p.=
XM_006721243.4:c.460-3786A>G XP_006721306.1:p.=
XM_011523259.2:c.-21+4115A>G XP_011521561.1:p.=
XM_011523260.3:c.460-3786A>G XP_011521562.1:p.=
XM_011523261.2:c.460-3786A>G XP_011521563.1:p.=
XM_017023536.1:c.-126-3786A>G XP_016879025.1:p.=
XM_017023537.1:c.-20-6489A>G XP_016879026.1:p.=
XM_017023538.1:c.-126-3786A>G XP_016879027.1:p.=
XR_429725.3:n.503-3786A>G
XR_429726.3:n.503-3786A>G
XR_933387.2:n.503-3786A>G
ENST00000300589.6:c.541-3786A>G ENSP00000300589.2:p.=
ENST00000526417.6:n.528-3786A>G
ENST00000527070.5:c.*1156-3786A>G ENSP00000435149.1:p.=
ENST00000532206.1:n.644+4115A>G