Canonical Allele Identifier: CA2595326964

Gene: NOD2

Linked Data

• dbSNP Id: rs2150791395
• gnomAD v3: 16-50703862-T-C
• gnomAD v4: 16-50703862-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50703862T>C , CM000678.2:g.50703862T>C	GRCh38
NC_000016.9:g.50737773T>C , CM000678.1:g.50737773T>C	GRCh37
NC_000016.8:g.49295274T>C	NCBI36
NG_007508.1:g.11724T>C , LRG_177:g.11724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.459+3908T>C	ENSP00000493088.1:n.459+3908T>C
ENST00000646677.2:c.459+3908T>C	ENSP00000496533.1:n.459+3908T>C
ENST00000641284.1:c.459+3908T>C	ENSP00000493088.1:n.459+3908T>C
ENST00000646677.1:c.459+3908T>C	ENSP00000496533.1:n.459+3908T>C
ENST00000647318.2:c.459+3908T>C MANE Select	ENSP00000495993.1:n.459+3908T>C
ENST00000300589.6:c.540+3908T>C	ENSP00000300589.2:n.540+3908T>C
ENST00000526417.6:n.527+3908T>C
ENST00000527070.5:c.*1155+3908T>C	ENSP00000435149.1:n.*1155+3908T>C
ENST00000532206.1:n.644+3908T>C
NM_001293557.1:c.459+3908T>C	NP_001280486.1:n.459+3908T>C
NM_022162.2:c.540+3908T>C	NP_071445.1:n.540+3908T>C
XM_005256084.2:c.459+3908T>C	XP_005256141.1:n.459+3908T>C
XM_006721242.2:c.459+3908T>C	XP_006721305.1:n.459+3908T>C
XM_006721243.2:c.459+3908T>C	XP_006721306.1:n.459+3908T>C
XM_011523257.1:c.-38+3908T>C	XP_011521559.1:n.-38+3908T>C
XM_011523258.1:c.-37-3993T>C	XP_011521560.1:n.-37-3993T>C
XM_011523259.1:c.-21+3908T>C	XP_011521561.1:n.-21+3908T>C
XM_011523260.1:c.459+3908T>C	XP_011521562.1:n.459+3908T>C
XM_011523261.1:c.459+3908T>C	XP_011521563.1:n.459+3908T>C
XR_429725.2:n.549+3908T>C
XR_429726.2:n.549+3908T>C
XR_933387.1:n.549+3908T>C
XM_005256084.4:c.459+3908T>C	XP_005256141.1:n.459+3908T>C
XM_006721242.4:c.459+3908T>C	XP_006721305.1:n.459+3908T>C
XM_006721243.4:c.459+3908T>C	XP_006721306.1:n.459+3908T>C
XM_011523259.2:c.-21+3908T>C	XP_011521561.1:n.-21+3908T>C
XM_011523260.3:c.459+3908T>C	XP_011521562.1:n.459+3908T>C
XM_011523261.2:c.459+3908T>C	XP_011521563.1:n.459+3908T>C
XM_017023536.1:c.-126-3993T>C	XP_016879025.1:n.-126-3993T>C
XM_017023537.1:c.-20-6696T>C	XP_016879026.1:n.-20-6696T>C
XM_017023538.1:c.-127+3785T>C	XP_016879027.1:n.-127+3785T>C
XR_429725.3:n.502+3908T>C
XR_429726.3:n.502+3908T>C
XR_933387.2:n.502+3908T>C
NM_001293557.2:c.459+3908T>C	NP_001280486.1:n.459+3908T>C
NM_001370466.1:c.459+3908T>C MANE Select	NP_001357395.1:n.459+3908T>C
NM_022162.3:c.540+3908T>C	NP_071445.1:n.540+3908T>C
NR_163434.1:n.524+3908T>C