Canonical Allele Identifier: CA721336509

Gene: NOD2

Linked Data

• dbSNP Id: rs1258524806
• MyVariant Identifiers: chr16:g.50745258_50745273del (hg19) ; chr16:g.50711347_50711362del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711347_50711362del , CM000678.2:g.50711347_50711362del	GRCh38
NC_000016.9:g.50745258_50745273del , CM000678.1:g.50745258_50745273del	GRCh37
NC_000016.8:g.49302759_49302774del	NCBI36
NG_007508.1:g.19209_19224del , LRG_177:g.19209_19224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1355_1370del	ENSP00000493088.1:p.Leu452ProfsTer?
ENST00000646677.2:c.1355_1370del	ENSP00000496533.1:p.Leu452ProfsTer?
ENST00000641284.1:c.1355_1370del	ENSP00000493088.1:p.Leu452ProfsTer?
ENST00000646677.1:c.1355_1370del	ENSP00000496533.1:p.Leu452ProfsTer?
ENST00000647318.2:c.1355_1370del MANE Select	ENSP00000495993.1:p.Leu452ProfsTer?
ENST00000300589.6:c.1436_1451del	ENSP00000300589.2:p.Leu479ProfsTer?
NM_001293557.1:c.1355_1370del	NP_001280486.1:p.Leu452ProfsTer?
NM_022162.2:c.1436_1451del	NP_071445.1:p.Leu479ProfsTer?
XM_005256084.2:c.1355_1370del	XP_005256141.1:p.Leu452ProfsTer?
XM_006721242.2:c.1355_1370del	XP_006721305.1:p.Leu452ProfsTer?
XM_006721243.2:c.1355_1370del	XP_006721306.1:p.Leu452ProfsTer?
XM_011523257.1:c.932_947del	XP_011521559.1:p.Leu311ProfsTer?
XM_011523258.1:c.932_947del	XP_011521560.1:p.Leu311ProfsTer?
XM_011523259.1:c.770_785del	XP_011521561.1:p.Leu257ProfsTer?
XM_011523260.1:c.1355_1370del	XP_011521562.1:p.Leu452ProfsTer?
XM_011523261.1:c.1355_1370del	XP_011521563.1:p.Leu452ProfsTer?
XR_429725.2:n.1445_1460del
XR_429726.2:n.1445_1460del
XR_933387.1:n.1445_1460del
XM_005256084.4:c.1355_1370del	XP_005256141.1:p.Leu452ProfsTer?
XM_006721242.4:c.1355_1370del	XP_006721305.1:p.Leu452ProfsTer?
XM_006721243.4:c.1355_1370del	XP_006721306.1:p.Leu452ProfsTer?
XM_011523259.2:c.770_785del	XP_011521561.1:p.Leu257ProfsTer?
XM_011523260.3:c.1355_1370del	XP_011521562.1:p.Leu452ProfsTer?
XM_011523261.2:c.1355_1370del	XP_011521563.1:p.Leu452ProfsTer?
XM_017023535.1:c.863_878del	XP_016879024.1:p.Leu288ProfsTer?
XM_017023536.1:c.770_785del	XP_016879025.1:p.Leu257ProfsTer?
XM_017023537.1:c.770_785del	XP_016879026.1:p.Leu257ProfsTer?
XM_017023538.1:c.770_785del	XP_016879027.1:p.Leu257ProfsTer?
XR_429725.3:n.1398_1413del
XR_429726.3:n.1398_1413del
XR_933387.2:n.1398_1413del
NM_001293557.2:c.1355_1370del	NP_001280486.1:p.Leu452ProfsTer?
NM_001370466.1:c.1355_1370del MANE Select	NP_001357395.1:p.Leu452ProfsTer?
NM_022162.3:c.1436_1451del	NP_071445.1:p.Leu479ProfsTer?
NR_163434.1:n.1420_1435del