Canonical Allele Identifier: CA2221867196
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50729840T= , CM000678.2:g.50729840T= GRCh38
NC_000016.9:g.50763751T= , CM000678.1:g.50763751T= GRCh37
NC_000016.8:g.49321252T= NCBI36
NG_007508.1:g.37702T= , LRG_177:g.37702T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.*22T= ENSP00000493088.1:n.*22T=
ENST00000646677.2:c.*673T= ENSP00000496533.1:n.*673T=
ENST00000697428.1:n.2386T=
ENST00000641284.1:c.*22T= ENSP00000493088.1:n.*22T=
ENST00000646677.1:c.*673T= ENSP00000496533.1:n.*673T=
ENST00000647318.2:c.2908T= MANE Select ENSP00000495993.1:p.Tyr970=
ENST00000300589.6:c.2989T= ENSP00000300589.2:p.Tyr997=
NM_001293557.1:c.2908T= NP_001280486.1:p.Tyr970=
NM_022162.2:c.2989T= NP_071445.1:p.Tyr997=
XM_005256084.2:c.2908T= XP_005256141.1:p.Tyr970=
XM_006721242.2:c.2824T= XP_006721305.1:p.Tyr942=
XM_011523257.1:c.2485T= XP_011521559.1:p.Tyr829=
XM_011523258.1:c.2485T= XP_011521560.1:p.Tyr829=
XM_011523259.1:c.2323T= XP_011521561.1:p.Tyr775=
XM_005256084.4:c.2908T= XP_005256141.1:p.Tyr970=
XM_006721242.4:c.2824T= XP_006721305.1:p.Tyr942=
XM_011523259.2:c.2323T= XP_011521561.1:p.Tyr775=
XM_017023535.1:c.2416T= XP_016879024.1:p.Tyr806=
XM_017023536.1:c.2323T= XP_016879025.1:p.Tyr775=
XM_017023537.1:c.2323T= XP_016879026.1:p.Tyr775=
XM_017023538.1:c.2323T= XP_016879027.1:p.Tyr775=
NM_001293557.2:c.2908T= NP_001280486.1:p.Tyr970=
NM_001370466.1:c.2908T= MANE Select NP_001357395.1:p.Tyr970=
NM_022162.3:c.2989T= NP_071445.1:p.Tyr997=
NR_163434.1:n.3120T=