Canonical Allele Identifier: CA2633162831

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699955-G-GCAAGAAGGCTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699955_50699956insCAAGAAGGCTGCT , CM000678.2:g.50699955_50699956insCAAGAAGGCTGCT	GRCh38
NC_000016.9:g.50733866_50733867insCAAGAAGGCTGCT , CM000678.1:g.50733866_50733867insCAAGAAGGCTGCT	GRCh37
NC_000016.8:g.49291367_49291368insCAAGAAGGCTGCT	NCBI36
NG_007508.1:g.7817_7818insCAAGAAGGCTGCT , LRG_177:g.7817_7818insCAAGAAGGCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.459+1_459+2insCAAGAAGGCTGCT	ENSP00000493088.1:n.459+1_459+2insCAAGAAGGCTGCT
ENST00000646677.2:c.459+1_459+2insCAAGAAGGCTGCT	ENSP00000496533.1:n.459+1_459+2insCAAGAAGGCTGCT
ENST00000641284.1:c.459+1_459+2insCAAGAAGGCTGCT	ENSP00000493088.1:n.459+1_459+2insCAAGAAGGCTGCT
ENST00000646677.1:c.459+1_459+2insCAAGAAGGCTGCT	ENSP00000496533.1:n.459+1_459+2insCAAGAAGGCTGCT
ENST00000647318.2:c.459+1_459+2insCAAGAAGGCTGCT MANE Select	ENSP00000495993.1:n.459+1_459+2insCAAGAAGGCTGCT
ENST00000300589.6:c.540+1_540+2insCAAGAAGGCTGCT	ENSP00000300589.2:n.540+1_540+2insCAAGAAGGCTGCT
ENST00000526417.6:n.527+1_527+2insCAAGAAGGCTGCT
ENST00000527070.5:c.*1155+1_*1155+2insCAAGAAGGCTGCT	ENSP00000435149.1:n.*1155+1_*1155+2insCAAGAAGGCTGCT
ENST00000532206.1:n.644+1_644+2insCAAGAAGGCTGCT
NM_001293557.1:c.459+1_459+2insCAAGAAGGCTGCT	NP_001280486.1:n.459+1_459+2insCAAGAAGGCTGCT
NM_022162.2:c.540+1_540+2insCAAGAAGGCTGCT	NP_071445.1:n.540+1_540+2insCAAGAAGGCTGCT
XM_005256084.2:c.459+1_459+2insCAAGAAGGCTGCT	XP_005256141.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_006721242.2:c.459+1_459+2insCAAGAAGGCTGCT	XP_006721305.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_006721243.2:c.459+1_459+2insCAAGAAGGCTGCT	XP_006721306.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_011523257.1:c.-38+1_-38+2insCAAGAAGGCTGCT	XP_011521559.1:n.-38+1_-38+2insCAAGAAGGCTGCT
XM_011523258.1:c.-38+6293_-38+6294insCAAGAAGGCTGCT	XP_011521560.1:n.-38+6293_-38+6294insCAAGAAGGCTGCT
XM_011523259.1:c.-21+1_-21+2insCAAGAAGGCTGCT	XP_011521561.1:n.-21+1_-21+2insCAAGAAGGCTGCT
XM_011523260.1:c.459+1_459+2insCAAGAAGGCTGCT	XP_011521562.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_011523261.1:c.459+1_459+2insCAAGAAGGCTGCT	XP_011521563.1:n.459+1_459+2insCAAGAAGGCTGCT
XR_429725.2:n.549+1_549+2insCAAGAAGGCTGCT
XR_429726.2:n.549+1_549+2insCAAGAAGGCTGCT
XR_933387.1:n.549+1_549+2insCAAGAAGGCTGCT
XM_005256084.4:c.459+1_459+2insCAAGAAGGCTGCT	XP_005256141.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_006721242.4:c.459+1_459+2insCAAGAAGGCTGCT	XP_006721305.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_006721243.4:c.459+1_459+2insCAAGAAGGCTGCT	XP_006721306.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_011523259.2:c.-21+1_-21+2insCAAGAAGGCTGCT	XP_011521561.1:n.-21+1_-21+2insCAAGAAGGCTGCT
XM_011523260.3:c.459+1_459+2insCAAGAAGGCTGCT	XP_011521562.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_011523261.2:c.459+1_459+2insCAAGAAGGCTGCT	XP_011521563.1:n.459+1_459+2insCAAGAAGGCTGCT
XM_017023536.1:c.-127+6293_-127+6294insCAAGAAGGCTGCT	XP_016879025.1:n.-127+6293_-127+6294insCAAGAAGGCTGCT
XM_017023537.1:c.-21+6293_-21+6294insCAAGAAGGCTGCT	XP_016879026.1:n.-21+6293_-21+6294insCAAGAAGGCTGCT
XR_429725.3:n.502+1_502+2insCAAGAAGGCTGCT
XR_429726.3:n.502+1_502+2insCAAGAAGGCTGCT
XR_933387.2:n.502+1_502+2insCAAGAAGGCTGCT
NM_001293557.2:c.459+1_459+2insCAAGAAGGCTGCT	NP_001280486.1:n.459+1_459+2insCAAGAAGGCTGCT
NM_001370466.1:c.459+1_459+2insCAAGAAGGCTGCT MANE Select	NP_001357395.1:n.459+1_459+2insCAAGAAGGCTGCT
NM_022162.3:c.540+1_540+2insCAAGAAGGCTGCT	NP_071445.1:n.540+1_540+2insCAAGAAGGCTGCT
NR_163434.1:n.524+1_524+2insCAAGAAGGCTGCT