Canonical Allele Identifier: CA281250509

Gene: NOD2

Linked Data

• dbSNP Id: rs1555497915
• MyVariant Identifiers: chr16:g.50733809_50733810insTCAGCCAGTATGAATGTGATGAAATCAGGT (hg19) ; chr16:g.50699898_50699899insTCAGCCAGTATGAATGTGATGAAATCAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699900_50699929dup , CM000678.2:g.50699900_50699929dup	GRCh38
NC_000016.9:g.50733811_50733840dup , CM000678.1:g.50733811_50733840dup	GRCh37
NC_000016.8:g.49291312_49291341dup	NCBI36
NG_007508.1:g.7762_7791dup , LRG_177:g.7762_7791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.405_434dup	ENSP00000493088.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluI...
ENST00000646677.2:c.405_434dup	ENSP00000496533.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluI...
ENST00000641284.1:c.405_434dup	ENSP00000493088.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluI...
ENST00000646677.1:c.405_434dup	ENSP00000496533.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluI...
ENST00000647318.2:c.405_434dup MANE Select	ENSP00000495993.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluI...
ENST00000300589.6:c.486_515dup	ENSP00000300589.2:p.Arg171_Leu172insPheSerGlnTyrGluCysAspGluI...
ENST00000526417.6:n.473_502dup
ENST00000527070.5:c.*1101_*1130dup	ENSP00000435149.1:n.*1101_*1130dup
ENST00000531674.1:c.405_434dup	ENSP00000431681.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluI...
ENST00000532206.1:n.590_619dup
NM_001293557.1:c.405_434dup	NP_001280486.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
NM_022162.2:c.486_515dup	NP_071445.1:p.Arg171_Leu172insPheSerGlnTyrGluCysAspGluIleArg
XM_005256084.2:c.405_434dup	XP_005256141.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_006721242.2:c.405_434dup	XP_006721305.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_006721243.2:c.405_434dup	XP_006721306.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_011523257.1:c.-92_-63dup	XP_011521559.1:n.-92_-63dup
XM_011523258.1:c.-38+6238_-38+6267dup	XP_011521560.1:n.-38+6238_-38+6267dup
XM_011523259.1:c.-75_-46dup	XP_011521561.1:n.-75_-46dup
XM_011523260.1:c.405_434dup	XP_011521562.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_011523261.1:c.405_434dup	XP_011521563.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XR_429725.2:n.495_524dup
XR_429726.2:n.495_524dup
XR_933387.1:n.495_524dup
XM_005256084.4:c.405_434dup	XP_005256141.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_006721242.4:c.405_434dup	XP_006721305.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_006721243.4:c.405_434dup	XP_006721306.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_011523259.2:c.-75_-46dup	XP_011521561.1:n.-75_-46dup
XM_011523260.3:c.405_434dup	XP_011521562.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_011523261.2:c.405_434dup	XP_011521563.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
XM_017023536.1:c.-127+6238_-127+6267dup	XP_016879025.1:n.-127+6238_-127+6267dup
XM_017023537.1:c.-21+6238_-21+6267dup	XP_016879026.1:n.-21+6238_-21+6267dup
XR_429725.3:n.448_477dup
XR_429726.3:n.448_477dup
XR_933387.2:n.448_477dup
NM_001293557.2:c.405_434dup	NP_001280486.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
NM_001370466.1:c.405_434dup MANE Select	NP_001357395.1:p.Arg144_Leu145insPheSerGlnTyrGluCysAspGluIleA...
NM_022162.3:c.486_515dup	NP_071445.1:p.Arg171_Leu172insPheSerGlnTyrGluCysAspGluIleArg
NR_163434.1:n.470_499dup