Canonical Allele Identifier: CA2221834483
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699653C= , CM000678.2:g.50699653C= GRCh38
NC_000016.9:g.50733564C= , CM000678.1:g.50733564C= GRCh37
NC_000016.8:g.49291065C= NCBI36
NG_007508.1:g.7515C= , LRG_177:g.7515C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.158C= ENSP00000493088.1:p.Pro53=
ENST00000646677.2:c.158C= ENSP00000496533.1:p.Pro53=
ENST00000641284.1:c.158C= ENSP00000493088.1:p.Pro53=
ENST00000646677.1:c.158C= ENSP00000496533.1:p.Pro53=
ENST00000647318.2:c.158C= MANE Select ENSP00000495993.1:p.Pro53=
ENST00000300589.6:c.239C= ENSP00000300589.2:p.Pro80=
ENST00000526417.6:n.226C=
ENST00000527070.5:c.*854C= ENSP00000435149.1:n.*854C=
ENST00000531674.1:c.158C= ENSP00000431681.1:p.Pro53=
ENST00000532206.1:n.343C=
NM_001293557.1:c.158C= NP_001280486.1:p.Pro53=
NM_022162.2:c.239C= NP_071445.1:p.Pro80=
XM_005256084.2:c.158C= XP_005256141.1:p.Pro53=
XM_006721242.2:c.158C= XP_006721305.1:p.Pro53=
XM_006721243.2:c.158C= XP_006721306.1:p.Pro53=
XM_011523258.1:c.-38+5991C= XP_011521560.1:n.-38+5991C=
XM_011523259.1:c.-322C= XP_011521561.1:n.-322C=
XM_011523260.1:c.158C= XP_011521562.1:p.Pro53=
XM_011523261.1:c.158C= XP_011521563.1:p.Pro53=
XR_429725.2:n.248C=
XR_429726.2:n.248C=
XR_933387.1:n.248C=
XM_005256084.4:c.158C= XP_005256141.1:p.Pro53=
XM_006721242.4:c.158C= XP_006721305.1:p.Pro53=
XM_006721243.4:c.158C= XP_006721306.1:p.Pro53=
XM_011523259.2:c.-322C= XP_011521561.1:n.-322C=
XM_011523260.3:c.158C= XP_011521562.1:p.Pro53=
XM_011523261.2:c.158C= XP_011521563.1:p.Pro53=
XM_017023536.1:c.-127+5991C= XP_016879025.1:n.-127+5991C=
XM_017023537.1:c.-21+5991C= XP_016879026.1:n.-21+5991C=
XR_429725.3:n.201C=
XR_429726.3:n.201C=
XR_933387.2:n.201C=
NM_001293557.2:c.158C= NP_001280486.1:p.Pro53=
NM_001370466.1:c.158C= MANE Select NP_001357395.1:p.Pro53=
NM_022162.3:c.239C= NP_071445.1:p.Pro80=
NR_163434.1:n.223C=