Canonical Allele Identifier: CA395866873

Gene: NOD2

Linked Data

• dbSNP Id: rs139571975
• gnomAD v4: 16-50699898-G-C
• MyVariant Identifiers: chr16:g.50733809G>C (hg19) ; chr16:g.50699898G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699898G>C , CM000678.2:g.50699898G>C	GRCh38
NC_000016.9:g.50733809G>C , CM000678.1:g.50733809G>C	GRCh37
NC_000016.8:g.49291310G>C	NCBI36
NG_007508.1:g.7760G>C , LRG_177:g.7760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.403G>C	ENSP00000493088.1:p.Val135Leu
ENST00000646677.2:c.403G>C	ENSP00000496533.1:p.Val135Leu
ENST00000641284.1:c.403G>C	ENSP00000493088.1:p.Val135Leu
ENST00000646677.1:c.403G>C	ENSP00000496533.1:p.Val135Leu
ENST00000647318.2:c.403G>C MANE Select	ENSP00000495993.1:p.Val135Leu
ENST00000300589.6:c.484G>C	ENSP00000300589.2:p.Val162Leu
ENST00000526417.6:n.471G>C
ENST00000527070.5:c.*1099G>C	ENSP00000435149.1:n.*1099G>C
ENST00000531674.1:c.403G>C	ENSP00000431681.1:p.Val135Leu
ENST00000532206.1:n.588G>C
NM_001293557.1:c.403G>C	NP_001280486.1:p.Val135Leu
NM_022162.2:c.484G>C	NP_071445.1:p.Val162Leu
XM_005256084.2:c.403G>C	XP_005256141.1:p.Val135Leu
XM_006721242.2:c.403G>C	XP_006721305.1:p.Val135Leu
XM_006721243.2:c.403G>C	XP_006721306.1:p.Val135Leu
XM_011523257.1:c.-94G>C	XP_011521559.1:n.-94G>C
XM_011523258.1:c.-38+6236G>C	XP_011521560.1:n.-38+6236G>C
XM_011523259.1:c.-77G>C	XP_011521561.1:n.-77G>C
XM_011523260.1:c.403G>C	XP_011521562.1:p.Val135Leu
XM_011523261.1:c.403G>C	XP_011521563.1:p.Val135Leu
XR_429725.2:n.493G>C
XR_429726.2:n.493G>C
XR_933387.1:n.493G>C
XM_005256084.4:c.403G>C	XP_005256141.1:p.Val135Leu
XM_006721242.4:c.403G>C	XP_006721305.1:p.Val135Leu
XM_006721243.4:c.403G>C	XP_006721306.1:p.Val135Leu
XM_011523259.2:c.-77G>C	XP_011521561.1:n.-77G>C
XM_011523260.3:c.403G>C	XP_011521562.1:p.Val135Leu
XM_011523261.2:c.403G>C	XP_011521563.1:p.Val135Leu
XM_017023536.1:c.-127+6236G>C	XP_016879025.1:n.-127+6236G>C
XM_017023537.1:c.-21+6236G>C	XP_016879026.1:n.-21+6236G>C
XR_429725.3:n.446G>C
XR_429726.3:n.446G>C
XR_933387.2:n.446G>C
NM_001293557.2:c.403G>C	NP_001280486.1:p.Val135Leu
NM_001370466.1:c.403G>C MANE Select	NP_001357395.1:p.Val135Leu
NM_022162.3:c.484G>C	NP_071445.1:p.Val162Leu
NR_163434.1:n.468G>C