Canonical Allele Identifier: CA2740093319

Gene: NOD2

Linked Data

• ClinVar Variation Id: 2938328
• ClinVar RCV Id: RCV003797150

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699947_50699948delinsTG , CM000678.2:g.50699947_50699948delinsTG	GRCh38
NC_000016.9:g.50733858_50733859delinsTG , CM000678.1:g.50733858_50733859delinsTG	GRCh37
NC_000016.8:g.49291359_49291360delinsTG	NCBI36
NG_007508.1:g.7809_7810delinsTG , LRG_177:g.7809_7810delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.452_453delinsTG	ENSP00000493088.1:p.Ser151Leu
ENST00000646677.2:c.452_453delinsTG	ENSP00000496533.1:p.Ser151Leu
ENST00000641284.1:c.452_453delinsTG	ENSP00000493088.1:p.Ser151Leu
ENST00000646677.1:c.452_453delinsTG	ENSP00000496533.1:p.Ser151Leu
ENST00000647318.2:c.452_453delinsTG MANE Select	ENSP00000495993.1:p.Ser151Leu
ENST00000300589.6:c.533_534delinsTG	ENSP00000300589.2:p.Ser178Leu
ENST00000526417.6:n.520_521delinsTG
ENST00000527070.5:c.*1148_*1149delinsTG	ENSP00000435149.1:n.*1148_*1149delinsTG
ENST00000532206.1:n.637_638delinsTG
NM_001293557.1:c.452_453delinsTG	NP_001280486.1:p.Ser151Leu
NM_022162.2:c.533_534delinsTG	NP_071445.1:p.Ser178Leu
XM_005256084.2:c.452_453delinsTG	XP_005256141.1:p.Ser151Leu
XM_006721242.2:c.452_453delinsTG	XP_006721305.1:p.Ser151Leu
XM_006721243.2:c.452_453delinsTG	XP_006721306.1:p.Ser151Leu
XM_011523257.1:c.-45_-44delinsTG	XP_011521559.1:n.-45_-44delinsTG
XM_011523258.1:c.-38+6285_-38+6286delinsTG	XP_011521560.1:n.-38+6285_-38+6286delinsTG
XM_011523259.1:c.-28_-27delinsTG	XP_011521561.1:n.-28_-27delinsTG
XM_011523260.1:c.452_453delinsTG	XP_011521562.1:p.Ser151Leu
XM_011523261.1:c.452_453delinsTG	XP_011521563.1:p.Ser151Leu
XR_429725.2:n.542_543delinsTG
XR_429726.2:n.542_543delinsTG
XR_933387.1:n.542_543delinsTG
XM_005256084.4:c.452_453delinsTG	XP_005256141.1:p.Ser151Leu
XM_006721242.4:c.452_453delinsTG	XP_006721305.1:p.Ser151Leu
XM_006721243.4:c.452_453delinsTG	XP_006721306.1:p.Ser151Leu
XM_011523259.2:c.-28_-27delinsTG	XP_011521561.1:n.-28_-27delinsTG
XM_011523260.3:c.452_453delinsTG	XP_011521562.1:p.Ser151Leu
XM_011523261.2:c.452_453delinsTG	XP_011521563.1:p.Ser151Leu
XM_017023536.1:c.-127+6285_-127+6286delinsTG	XP_016879025.1:n.-127+6285_-127+6286delinsTG
XM_017023537.1:c.-21+6285_-21+6286delinsTG	XP_016879026.1:n.-21+6285_-21+6286delinsTG
XR_429725.3:n.495_496delinsTG
XR_429726.3:n.495_496delinsTG
XR_933387.2:n.495_496delinsTG
NM_001293557.2:c.452_453delinsTG	NP_001280486.1:p.Ser151Leu
NM_001370466.1:c.452_453delinsTG MANE Select	NP_001357395.1:p.Ser151Leu
NM_022162.3:c.533_534delinsTG	NP_071445.1:p.Ser178Leu
NR_163434.1:n.517_518delinsTG