Canonical Allele Identifier: CA622232961

Gene: NOD2

Linked Data

• dbSNP Id: rs1434433650
• gnomAD v2: 16-50739605-CTT-C
• gnomAD v3: 16-50705694-CTT-C
• gnomAD v4: 16-50705694-CTT-C
• MyVariant Identifiers: chr16:g.50739606_50739607del (hg19) ; chr16:g.50705695_50705696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50705696_50705697del , CM000678.2:g.50705696_50705697del	GRCh38
NC_000016.9:g.50739607_50739608del , CM000678.1:g.50739607_50739608del	GRCh37
NC_000016.8:g.49297108_49297109del	NCBI36
NG_007508.1:g.13558_13559del , LRG_177:g.13558_13559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.460-2159_460-2158del	ENSP00000493088.1:n.460-2159_460-2158del
ENST00000646677.2:c.460-2159_460-2158del	ENSP00000496533.1:n.460-2159_460-2158del
ENST00000641284.1:c.460-2159_460-2158del	ENSP00000493088.1:n.460-2159_460-2158del
ENST00000646677.1:c.460-2159_460-2158del	ENSP00000496533.1:n.460-2159_460-2158del
ENST00000647318.2:c.460-2159_460-2158del MANE Select	ENSP00000495993.1:n.460-2159_460-2158del
ENST00000300589.6:c.541-2159_541-2158del	ENSP00000300589.2:n.541-2159_541-2158del
ENST00000526417.6:n.528-2159_528-2158del
ENST00000527070.5:c.*1156-2159_*1156-2158del	ENSP00000435149.1:n.*1156-2159_*1156-2158...
ENST00000532206.1:n.645-4862_645-4861del
NM_001293557.1:c.460-2159_460-2158del	NP_001280486.1:n.460-2159_460-2158del
NM_022162.2:c.541-2159_541-2158del	NP_071445.1:n.541-2159_541-2158del
XM_005256084.2:c.460-2159_460-2158del	XP_005256141.1:n.460-2159_460-2158del
XM_006721242.2:c.460-2159_460-2158del	XP_006721305.1:n.460-2159_460-2158del
XM_006721243.2:c.460-2159_460-2158del	XP_006721306.1:n.460-2159_460-2158del
XM_011523257.1:c.-37-2159_-37-2158del	XP_011521559.1:n.-37-2159_-37-2158del
XM_011523258.1:c.-37-2159_-37-2158del	XP_011521560.1:n.-37-2159_-37-2158del
XM_011523259.1:c.-20-4862_-20-4861del	XP_011521561.1:n.-20-4862_-20-4861del
XM_011523260.1:c.460-2159_460-2158del	XP_011521562.1:n.460-2159_460-2158del
XM_011523261.1:c.460-2159_460-2158del	XP_011521563.1:n.460-2159_460-2158del
XR_429725.2:n.550-2159_550-2158del
XR_429726.2:n.550-2159_550-2158del
XR_933387.1:n.550-2159_550-2158del
XM_005256084.4:c.460-2159_460-2158del	XP_005256141.1:n.460-2159_460-2158del
XM_006721242.4:c.460-2159_460-2158del	XP_006721305.1:n.460-2159_460-2158del
XM_006721243.4:c.460-2159_460-2158del	XP_006721306.1:n.460-2159_460-2158del
XM_011523259.2:c.-20-4862_-20-4861del	XP_011521561.1:n.-20-4862_-20-4861del
XM_011523260.3:c.460-2159_460-2158del	XP_011521562.1:n.460-2159_460-2158del
XM_011523261.2:c.460-2159_460-2158del	XP_011521563.1:n.460-2159_460-2158del
XM_017023536.1:c.-126-2159_-126-2158del	XP_016879025.1:n.-126-2159_-126-2158del
XM_017023537.1:c.-20-4862_-20-4861del	XP_016879026.1:n.-20-4862_-20-4861del
XM_017023538.1:c.-126-2159_-126-2158del	XP_016879027.1:n.-126-2159_-126-2158del
XR_429725.3:n.503-2159_503-2158del
XR_429726.3:n.503-2159_503-2158del
XR_933387.2:n.503-2159_503-2158del
NM_001293557.2:c.460-2159_460-2158del	NP_001280486.1:n.460-2159_460-2158del
NM_001370466.1:c.460-2159_460-2158del MANE Select	NP_001357395.1:n.460-2159_460-2158del
NM_022162.3:c.541-2159_541-2158del	NP_071445.1:n.541-2159_541-2158del
NR_163434.1:n.525-2159_525-2158del