Canonical Allele Identifier: CA8051170
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50697303C>T , CM000678.2:g.50697303C>T GRCh38
NC_000016.9:g.50731214C>T , CM000678.1:g.50731214C>T GRCh37
NC_000016.8:g.49288715C>T NCBI36
NG_007508.1:g.5165C>T , LRG_177:g.5165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.-8-2185C>T ENSP00000493088.1:n.-8-2185C>T
ENST00000646677.2:c.-8-2185C>T ENSP00000496533.1:n.-8-2185C>T
ENST00000641284.1:c.-8-2185C>T ENSP00000493088.1:n.-8-2185C>T
ENST00000646677.1:c.-8-2185C>T ENSP00000496533.1:n.-8-2185C>T
ENST00000647318.2:c.-8-2185C>T MANE Select ENSP00000495993.1:n.-8-2185C>T
ENST00000300589.6:c.60C>T ENSP00000300589.2:p.Leu20=
ENST00000526417.6:n.61-2185C>T
ENST00000527070.5:c.60C>T ENSP00000435149.1:p.Leu20=
ENST00000531674.1:c.-9+823C>T ENSP00000431681.1:n.-9+823C>T
ENST00000532206.1:n.164C>T
NM_022162.2:c.60C>T NP_071445.1:p.Leu20=
XM_005256084.2:c.-8-2185C>T XP_005256141.1:n.-8-2185C>T
XM_006721242.2:c.-8-2185C>T XP_006721305.1:n.-8-2185C>T
XM_006721243.2:c.-8-2185C>T XP_006721306.1:n.-8-2185C>T
XM_011523258.1:c.-38+3641C>T XP_011521560.1:n.-38+3641C>T
XM_011523260.1:c.-8-2185C>T XP_011521562.1:n.-8-2185C>T
XM_011523261.1:c.-8-2185C>T XP_011521563.1:n.-8-2185C>T
XR_429725.2:n.83-2185C>T
XR_429726.2:n.83-2185C>T
XR_933387.1:n.83-2185C>T
XM_005256084.4:c.-8-2185C>T XP_005256141.1:n.-8-2185C>T
XM_006721242.4:c.-8-2185C>T XP_006721305.1:n.-8-2185C>T
XM_006721243.4:c.-8-2185C>T XP_006721306.1:n.-8-2185C>T
XM_011523260.3:c.-8-2185C>T XP_011521562.1:n.-8-2185C>T
XM_011523261.2:c.-8-2185C>T XP_011521563.1:n.-8-2185C>T
XM_017023536.1:c.-127+3641C>T XP_016879025.1:n.-127+3641C>T
XM_017023537.1:c.-21+3641C>T XP_016879026.1:n.-21+3641C>T
XR_429725.3:n.36-2185C>T
XR_429726.3:n.36-2185C>T
XR_933387.2:n.36-2185C>T
NM_001370466.1:c.-8-2185C>T MANE Select NP_001357395.1:n.-8-2185C>T
NM_022162.3:c.60C>T NP_071445.1:p.Leu20=
NR_163434.1:n.58-2185C>T