Canonical Allele Identifier: CA3000292097

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729876dup , CM000678.2:g.50729876dup	GRCh38
NC_000016.9:g.50763787dup , CM000678.1:g.50763787dup	GRCh37
NC_000016.8:g.49321288dup	NCBI36
NG_007508.1:g.37738dup , LRG_177:g.37738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*58dup	ENSP00000493088.1:n.*58dup
ENST00000646677.2:c.*709dup	ENSP00000496533.1:n.*709dup
ENST00000697428.1:n.2422dup
ENST00000641284.1:c.*58dup	ENSP00000493088.1:n.*58dup
ENST00000646677.1:c.*709dup	ENSP00000496533.1:n.*709dup
ENST00000647318.2:c.2944dup MANE Select	ENSP00000495993.1:p.Arg982LysfsTer3
ENST00000300589.6:c.3025dup	ENSP00000300589.2:p.Arg1009LysfsTer3
NM_001293557.1:c.2944dup	NP_001280486.1:p.Arg982LysfsTer3
NM_022162.2:c.3025dup	NP_071445.1:p.Arg1009LysfsTer3
XM_005256084.2:c.2944dup	XP_005256141.1:p.Arg982LysfsTer3
XM_006721242.2:c.2860dup	XP_006721305.1:p.Arg954LysfsTer3
XM_011523257.1:c.2521dup	XP_011521559.1:p.Arg841LysfsTer3
XM_011523258.1:c.2521dup	XP_011521560.1:p.Arg841LysfsTer3
XM_011523259.1:c.2359dup	XP_011521561.1:p.Arg787LysfsTer3
XM_005256084.4:c.2944dup	XP_005256141.1:p.Arg982LysfsTer3
XM_006721242.4:c.2860dup	XP_006721305.1:p.Arg954LysfsTer3
XM_011523259.2:c.2359dup	XP_011521561.1:p.Arg787LysfsTer3
XM_017023535.1:c.2452dup	XP_016879024.1:p.Arg818LysfsTer3
XM_017023536.1:c.2359dup	XP_016879025.1:p.Arg787LysfsTer3
XM_017023537.1:c.2359dup	XP_016879026.1:p.Arg787LysfsTer3
XM_017023538.1:c.2359dup	XP_016879027.1:p.Arg787LysfsTer3
NM_001293557.2:c.2944dup	NP_001280486.1:p.Arg982LysfsTer3
NM_001370466.1:c.2944dup MANE Select	NP_001357395.1:p.Arg982LysfsTer3
NM_022162.3:c.3025dup	NP_071445.1:p.Arg1009LysfsTer3
NR_163434.1:n.3156dup