Canonical Allele Identifier: CA2221834602
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699675C= , CM000678.2:g.50699675C= GRCh38
NC_000016.9:g.50733586C= , CM000678.1:g.50733586C= GRCh37
NC_000016.8:g.49291087C= NCBI36
NG_007508.1:g.7537C= , LRG_177:g.7537C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.180C= ENSP00000493088.1:p.Arg60=
ENST00000646677.2:c.180C= ENSP00000496533.1:p.Arg60=
ENST00000641284.1:c.180C= ENSP00000493088.1:p.Arg60=
ENST00000646677.1:c.180C= ENSP00000496533.1:p.Arg60=
ENST00000647318.2:c.180C= MANE Select ENSP00000495993.1:p.Arg60=
ENST00000300589.6:c.261C= ENSP00000300589.2:p.Arg87=
ENST00000526417.6:n.248C=
ENST00000527070.5:c.*876C= ENSP00000435149.1:n.*876C=
ENST00000531674.1:c.180C= ENSP00000431681.1:p.Arg60=
ENST00000532206.1:n.365C=
NM_001293557.1:c.180C= NP_001280486.1:p.Arg60=
NM_022162.2:c.261C= NP_071445.1:p.Arg87=
XM_005256084.2:c.180C= XP_005256141.1:p.Arg60=
XM_006721242.2:c.180C= XP_006721305.1:p.Arg60=
XM_006721243.2:c.180C= XP_006721306.1:p.Arg60=
XM_011523258.1:c.-38+6013C= XP_011521560.1:n.-38+6013C=
XM_011523259.1:c.-300C= XP_011521561.1:n.-300C=
XM_011523260.1:c.180C= XP_011521562.1:p.Arg60=
XM_011523261.1:c.180C= XP_011521563.1:p.Arg60=
XR_429725.2:n.270C=
XR_429726.2:n.270C=
XR_933387.1:n.270C=
XM_005256084.4:c.180C= XP_005256141.1:p.Arg60=
XM_006721242.4:c.180C= XP_006721305.1:p.Arg60=
XM_006721243.4:c.180C= XP_006721306.1:p.Arg60=
XM_011523259.2:c.-300C= XP_011521561.1:n.-300C=
XM_011523260.3:c.180C= XP_011521562.1:p.Arg60=
XM_011523261.2:c.180C= XP_011521563.1:p.Arg60=
XM_017023536.1:c.-127+6013C= XP_016879025.1:n.-127+6013C=
XM_017023537.1:c.-21+6013C= XP_016879026.1:n.-21+6013C=
XR_429725.3:n.223C=
XR_429726.3:n.223C=
XR_933387.2:n.223C=
NM_001293557.2:c.180C= NP_001280486.1:p.Arg60=
NM_001370466.1:c.180C= MANE Select NP_001357395.1:p.Arg60=
NM_022162.3:c.261C= NP_071445.1:p.Arg87=
NR_163434.1:n.245C=