Canonical Allele Identifier: CA977237309

Gene: NOD2

Linked Data

• dbSNP Id: rs1965505932
• gnomAD v3: 16-50732942-T-C
• gnomAD v4: 16-50732942-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50732942T>C , CM000678.2:g.50732942T>C	GRCh38
NC_000016.9:g.50766853T>C , CM000678.1:g.50766853T>C	GRCh37
NC_000016.8:g.49324354T>C	NCBI36
NG_007508.1:g.40804T>C , LRG_177:g.40804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*1279T>C	ENSP00000493088.1:n.*1279T>C
ENST00000646677.2:c.*1930T>C	ENSP00000496533.1:n.*1930T>C
ENST00000697428.1:n.3643T>C
ENST00000641284.1:c.*1279T>C	ENSP00000493088.1:n.*1279T>C
ENST00000646677.1:c.*1930T>C	ENSP00000496533.1:n.*1930T>C
ENST00000647318.2:c.*1123T>C MANE Select	ENSP00000495993.1:n.*1123T>C
ENST00000300589.6:c.*1123T>C	ENSP00000300589.2:n.*1123T>C
NM_001293557.1:c.*1123T>C	NP_001280486.1:n.*1123T>C
NM_022162.2:c.*1123T>C	NP_071445.1:n.*1123T>C
XM_005256084.2:c.*1123T>C	XP_005256141.1:n.*1123T>C
XM_006721242.2:c.*1123T>C	XP_006721305.1:n.*1123T>C
XM_011523257.1:c.*1123T>C	XP_011521559.1:n.*1123T>C
XM_011523258.1:c.*1123T>C	XP_011521560.1:n.*1123T>C
XM_011523259.1:c.*1123T>C	XP_011521561.1:n.*1123T>C
XM_005256084.4:c.*1123T>C	XP_005256141.1:n.*1123T>C
XM_006721242.4:c.*1123T>C	XP_006721305.1:n.*1123T>C
XM_011523259.2:c.*1123T>C	XP_011521561.1:n.*1123T>C
XM_017023535.1:c.*1123T>C	XP_016879024.1:n.*1123T>C
XM_017023536.1:c.*1123T>C	XP_016879025.1:n.*1123T>C
XM_017023537.1:c.*1123T>C	XP_016879026.1:n.*1123T>C
XM_017023538.1:c.*1123T>C	XP_016879027.1:n.*1123T>C
NM_001293557.2:c.*1123T>C	NP_001280486.1:n.*1123T>C
NM_001370466.1:c.*1123T>C MANE Select	NP_001357395.1:n.*1123T>C
NM_022162.3:c.*1123T>C	NP_071445.1:n.*1123T>C
NR_163434.1:n.4377T>C