Canonical Allele Identifier: CA8051192

Gene: NOD2

Linked Data

• dbSNP Id: rs753259931
• ExAC: 16:50733387 TCTC / T
• gnomAD v2: 16-50733387-TCTC-T
• gnomAD v3: 16-50699476-TCTC-T
• gnomAD v4: 16-50699476-TCTC-T
• MyVariant Identifiers: chr16:g.50733388_50733390del (hg19) ; chr16:g.50699477_50699479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699481_50699483del , CM000678.2:g.50699481_50699483del	GRCh38
NC_000016.9:g.50733392_50733394del , CM000678.1:g.50733392_50733394del	GRCh37
NC_000016.8:g.49290893_49290895del	NCBI36
NG_007508.1:g.7343_7345del , LRG_177:g.7343_7345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.-8-7_-8-5del	ENSP00000493088.1:n.-8-7_-8-5del
ENST00000646677.2:c.-8-7_-8-5del	ENSP00000496533.1:n.-8-7_-8-5del
ENST00000641284.1:c.-8-7_-8-5del	ENSP00000493088.1:n.-8-7_-8-5del
ENST00000646677.1:c.-8-7_-8-5del	ENSP00000496533.1:n.-8-7_-8-5del
ENST00000647318.2:c.-8-7_-8-5del MANE Select	ENSP00000495993.1:n.-8-7_-8-5del
ENST00000300589.6:c.74-7_74-5del	ENSP00000300589.2:n.74-7_74-5del
ENST00000526417.6:n.61-7_61-5del
ENST00000527070.5:c.*689-7_*689-5del	ENSP00000435149.1:n.*689-7_*689-5del
ENST00000531674.1:c.-8-7_-8-5del	ENSP00000431681.1:n.-8-7_-8-5del
ENST00000532206.1:n.178-7_178-5del
NM_001293557.1:c.-15_-13del	NP_001280486.1:n.-15_-13del
NM_022162.2:c.74-7_74-5del	NP_071445.1:n.74-7_74-5del
XM_005256084.2:c.-8-7_-8-5del	XP_005256141.1:n.-8-7_-8-5del
XM_006721242.2:c.-8-7_-8-5del	XP_006721305.1:n.-8-7_-8-5del
XM_006721243.2:c.-8-7_-8-5del	XP_006721306.1:n.-8-7_-8-5del
XM_011523258.1:c.-38+5819_-38+5821del	XP_011521560.1:n.-38+5819_-38+5821del
XM_011523260.1:c.-8-7_-8-5del	XP_011521562.1:n.-8-7_-8-5del
XM_011523261.1:c.-8-7_-8-5del	XP_011521563.1:n.-8-7_-8-5del
XR_429725.2:n.83-7_83-5del
XR_429726.2:n.83-7_83-5del
XR_933387.1:n.83-7_83-5del
XM_005256084.4:c.-8-7_-8-5del	XP_005256141.1:n.-8-7_-8-5del
XM_006721242.4:c.-8-7_-8-5del	XP_006721305.1:n.-8-7_-8-5del
XM_006721243.4:c.-8-7_-8-5del	XP_006721306.1:n.-8-7_-8-5del
XM_011523260.3:c.-8-7_-8-5del	XP_011521562.1:n.-8-7_-8-5del
XM_011523261.2:c.-8-7_-8-5del	XP_011521563.1:n.-8-7_-8-5del
XM_017023536.1:c.-127+5819_-127+5821del	XP_016879025.1:n.-127+5819_-127+5821del
XM_017023537.1:c.-21+5819_-21+5821del	XP_016879026.1:n.-21+5819_-21+5821del
XR_429725.3:n.36-7_36-5del
XR_429726.3:n.36-7_36-5del
XR_933387.2:n.36-7_36-5del
NM_001293557.2:c.-15_-13del	NP_001280486.1:n.-15_-13del
NM_001370466.1:c.-8-7_-8-5del MANE Select	NP_001357395.1:n.-8-7_-8-5del
NM_022162.3:c.74-7_74-5del	NP_071445.1:n.74-7_74-5del
NR_163434.1:n.58-7_58-5del