Canonical Allele Identifier: CA8051300
Gene: NOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 319429
dbSNP Id: rs2067085

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699948C>G , CM000678.2:g.50699948C>G GRCh38
NC_000016.9:g.50733859C>G , CM000678.1:g.50733859C>G GRCh37
NC_000016.8:g.49291360C>G NCBI36
NG_007508.1:g.7810C>G , LRG_177:g.7810C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.2:c.453C>G ENSP00000493088.1:p.Ser151=
ENST00000646677.2:c.453C>G ENSP00000496533.1:p.Ser151=
ENST00000641284.1:c.453C>G ENSP00000493088.1:p.Ser151=
ENST00000646677.1:c.453C>G ENSP00000496533.1:p.Ser151=
ENST00000647318.2:c.453C>G MANE Select ENSP00000495993.1:p.Ser151=
ENST00000300589.6:c.534C>G ENSP00000300589.2:p.Ser178=
ENST00000526417.6:n.521C>G
ENST00000527070.5:c.*1149C>G ENSP00000435149.1:n.*1149C>G
ENST00000532206.1:n.638C>G
NM_001293557.1:c.453C>G NP_001280486.1:p.Ser151=
NM_022162.2:c.534C>G NP_071445.1:p.Ser178=
XM_005256084.2:c.453C>G XP_005256141.1:p.Ser151=
XM_006721242.2:c.453C>G XP_006721305.1:p.Ser151=
XM_006721243.2:c.453C>G XP_006721306.1:p.Ser151=
XM_011523257.1:c.-44C>G XP_011521559.1:n.-44C>G
XM_011523258.1:c.-38+6286C>G XP_011521560.1:n.-38+6286C>G
XM_011523259.1:c.-27C>G XP_011521561.1:n.-27C>G
XM_011523260.1:c.453C>G XP_011521562.1:p.Ser151=
XM_011523261.1:c.453C>G XP_011521563.1:p.Ser151=
XR_429725.2:n.543C>G
XR_429726.2:n.543C>G
XR_933387.1:n.543C>G
XM_005256084.4:c.453C>G XP_005256141.1:p.Ser151=
XM_006721242.4:c.453C>G XP_006721305.1:p.Ser151=
XM_006721243.4:c.453C>G XP_006721306.1:p.Ser151=
XM_011523259.2:c.-27C>G XP_011521561.1:n.-27C>G
XM_011523260.3:c.453C>G XP_011521562.1:p.Ser151=
XM_011523261.2:c.453C>G XP_011521563.1:p.Ser151=
XM_017023536.1:c.-127+6286C>G XP_016879025.1:n.-127+6286C>G
XM_017023537.1:c.-21+6286C>G XP_016879026.1:n.-21+6286C>G
XR_429725.3:n.496C>G
XR_429726.3:n.496C>G
XR_933387.2:n.496C>G
NM_001293557.2:c.453C>G NP_001280486.1:p.Ser151=
NM_001370466.1:c.453C>G MANE Select NP_001357395.1:p.Ser151=
NM_022162.3:c.534C>G NP_071445.1:p.Ser178=
NR_163434.1:n.518C>G