Canonical Allele Identifier: CA721363865

Gene: NOD2

Linked Data

• dbSNP Id: rs2066847
• MyVariant Identifiers: chr16:g.50763779del (hg19) ; chr16:g.50729868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729870del , CM000678.2:g.50729870del	GRCh38
NC_000016.9:g.50763781del , CM000678.1:g.50763781del	GRCh37
NC_000016.8:g.49321282del	NCBI36
NG_007508.1:g.37732del , LRG_177:g.37732del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*52del	ENSP00000493088.1:n.*52del
ENST00000646677.2:c.*703del	ENSP00000496533.1:n.*703del
ENST00000697428.1:n.2416del
ENST00000641284.1:c.*52del	ENSP00000493088.1:n.*52del
ENST00000646677.1:c.*703del	ENSP00000496533.1:n.*703del
ENST00000647318.2:c.2938del MANE Select	ENSP00000495993.1:p.Glu981LysfsTer18
ENST00000300589.6:c.3019del	ENSP00000300589.2:p.Glu1008LysfsTer18
NM_001293557.1:c.2938del	NP_001280486.1:p.Glu981LysfsTer18
NM_022162.2:c.3019del	NP_071445.1:p.Glu1008LysfsTer18
XM_005256084.2:c.2938del	XP_005256141.1:p.Glu981LysfsTer18
XM_006721242.2:c.2854del	XP_006721305.1:p.Glu953LysfsTer18
XM_011523257.1:c.2515del	XP_011521559.1:p.Glu840LysfsTer18
XM_011523258.1:c.2515del	XP_011521560.1:p.Glu840LysfsTer18
XM_011523259.1:c.2353del	XP_011521561.1:p.Glu786LysfsTer18
XM_005256084.4:c.2938del	XP_005256141.1:p.Glu981LysfsTer18
XM_006721242.4:c.2854del	XP_006721305.1:p.Glu953LysfsTer18
XM_011523259.2:c.2353del	XP_011521561.1:p.Glu786LysfsTer18
XM_017023535.1:c.2446del	XP_016879024.1:p.Glu817LysfsTer18
XM_017023536.1:c.2353del	XP_016879025.1:p.Glu786LysfsTer18
XM_017023537.1:c.2353del	XP_016879026.1:p.Glu786LysfsTer18
XM_017023538.1:c.2353del	XP_016879027.1:p.Glu786LysfsTer18
NM_001293557.2:c.2938del	NP_001280486.1:p.Glu981LysfsTer18
NM_001370466.1:c.2938del MANE Select	NP_001357395.1:p.Glu981LysfsTer18
NM_022162.3:c.3019del	NP_071445.1:p.Glu1008LysfsTer18
NR_163434.1:n.3150del