Canonical Allele Identifier: CA2221868492

Gene: NOD2

Linked Data

• dbSNP Id: rs1965505463
• gnomAD v4: 16-50732911-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50732911A>C , CM000678.2:g.50732911A>C	GRCh38
NC_000016.9:g.50766822A>C , CM000678.1:g.50766822A>C	GRCh37
NC_000016.8:g.49324323A>C	NCBI36
NG_007508.1:g.40773A>C , LRG_177:g.40773A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*1248A>C	ENSP00000493088.1:n.*1248A>C
ENST00000646677.2:c.*1899A>C	ENSP00000496533.1:n.*1899A>C
ENST00000697428.1:n.3612A>C
ENST00000641284.1:c.*1248A>C	ENSP00000493088.1:n.*1248A>C
ENST00000646677.1:c.*1899A>C	ENSP00000496533.1:n.*1899A>C
ENST00000647318.2:c.*1092A>C MANE Select	ENSP00000495993.1:n.*1092A>C
ENST00000300589.6:c.*1092A>C	ENSP00000300589.2:n.*1092A>C
NM_001293557.1:c.*1092A>C	NP_001280486.1:n.*1092A>C
NM_022162.2:c.*1092A>C	NP_071445.1:n.*1092A>C
XM_005256084.2:c.*1092A>C	XP_005256141.1:n.*1092A>C
XM_006721242.2:c.*1092A>C	XP_006721305.1:n.*1092A>C
XM_011523257.1:c.*1092A>C	XP_011521559.1:n.*1092A>C
XM_011523258.1:c.*1092A>C	XP_011521560.1:n.*1092A>C
XM_011523259.1:c.*1092A>C	XP_011521561.1:n.*1092A>C
XM_005256084.4:c.*1092A>C	XP_005256141.1:n.*1092A>C
XM_006721242.4:c.*1092A>C	XP_006721305.1:n.*1092A>C
XM_011523259.2:c.*1092A>C	XP_011521561.1:n.*1092A>C
XM_017023535.1:c.*1092A>C	XP_016879024.1:n.*1092A>C
XM_017023536.1:c.*1092A>C	XP_016879025.1:n.*1092A>C
XM_017023537.1:c.*1092A>C	XP_016879026.1:n.*1092A>C
XM_017023538.1:c.*1092A>C	XP_016879027.1:n.*1092A>C
NM_001293557.2:c.*1092A>C	NP_001280486.1:n.*1092A>C
NM_001370466.1:c.*1092A>C MANE Select	NP_001357395.1:n.*1092A>C
NM_022162.3:c.*1092A>C	NP_071445.1:n.*1092A>C
NR_163434.1:n.4346A>C