Canonical Allele Identifier: CA622654317

Gene: NOD2

Linked Data

• dbSNP Id: rs1417782717
• gnomAD v2: 16-50744450-CTCT-C
• gnomAD v3: 16-50710539-CTCT-C
• gnomAD v4: 16-50710539-CTCT-C
• MyVariant Identifiers: chr16:g.50744451_50744453del (hg19) ; chr16:g.50710540_50710542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710546_50710548del , CM000678.2:g.50710546_50710548del	GRCh38
NC_000016.9:g.50744457_50744459del , CM000678.1:g.50744457_50744459del	GRCh37
NC_000016.8:g.49301958_49301960del	NCBI36
NG_007508.1:g.18408_18410del , LRG_177:g.18408_18410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.566-12_566-10del	ENSP00000493088.1:n.566-12_566-10del
ENST00000646677.2:c.566-12_566-10del	ENSP00000496533.1:n.566-12_566-10del
ENST00000641284.1:c.566-12_566-10del	ENSP00000493088.1:n.566-12_566-10del
ENST00000646677.1:c.566-12_566-10del	ENSP00000496533.1:n.566-12_566-10del
ENST00000647318.2:c.566-12_566-10del MANE Select	ENSP00000495993.1:n.566-12_566-10del
ENST00000300589.6:c.647-12_647-10del	ENSP00000300589.2:n.647-12_647-10del
ENST00000526417.6:n.707-12_707-10del
ENST00000527070.5:c.*1262-12_*1262-10del	ENSP00000435149.1:n.*1262-12_*1262-10del
ENST00000532206.1:n.645-12_645-10del
NM_001293557.1:c.566-12_566-10del	NP_001280486.1:n.566-12_566-10del
NM_022162.2:c.647-12_647-10del	NP_071445.1:n.647-12_647-10del
XM_005256084.2:c.566-12_566-10del	XP_005256141.1:n.566-12_566-10del
XM_006721242.2:c.566-12_566-10del	XP_006721305.1:n.566-12_566-10del
XM_006721243.2:c.566-12_566-10del	XP_006721306.1:n.566-12_566-10del
XM_011523257.1:c.143-12_143-10del	XP_011521559.1:n.143-12_143-10del
XM_011523258.1:c.143-12_143-10del	XP_011521560.1:n.143-12_143-10del
XM_011523259.1:c.-20-12_-20-10del	XP_011521561.1:n.-20-12_-20-10del
XM_011523260.1:c.566-12_566-10del	XP_011521562.1:n.566-12_566-10del
XM_011523261.1:c.566-12_566-10del	XP_011521563.1:n.566-12_566-10del
XR_429725.2:n.656-12_656-10del
XR_429726.2:n.656-12_656-10del
XR_933387.1:n.656-12_656-10del
XM_005256084.4:c.566-12_566-10del	XP_005256141.1:n.566-12_566-10del
XM_006721242.4:c.566-12_566-10del	XP_006721305.1:n.566-12_566-10del
XM_006721243.4:c.566-12_566-10del	XP_006721306.1:n.566-12_566-10del
XM_011523259.2:c.-20-12_-20-10del	XP_011521561.1:n.-20-12_-20-10del
XM_011523260.3:c.566-12_566-10del	XP_011521562.1:n.566-12_566-10del
XM_011523261.2:c.566-12_566-10del	XP_011521563.1:n.566-12_566-10del
XM_017023535.1:c.74-12_74-10del	XP_016879024.1:n.74-12_74-10del
XM_017023536.1:c.-20-12_-20-10del	XP_016879025.1:n.-20-12_-20-10del
XM_017023537.1:c.-20-12_-20-10del	XP_016879026.1:n.-20-12_-20-10del
XM_017023538.1:c.-20-12_-20-10del	XP_016879027.1:n.-20-12_-20-10del
XR_429725.3:n.609-12_609-10del
XR_429726.3:n.609-12_609-10del
XR_933387.2:n.609-12_609-10del
NM_001293557.2:c.566-12_566-10del	NP_001280486.1:n.566-12_566-10del
NM_001370466.1:c.566-12_566-10del MANE Select	NP_001357395.1:n.566-12_566-10del
NM_022162.3:c.647-12_647-10del	NP_071445.1:n.647-12_647-10del
NR_163434.1:n.631-12_631-10del