Canonical Allele Identifier: CA395876869

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763789G>C (hg19) ; chr16:g.50729878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729878G>C , CM000678.2:g.50729878G>C	GRCh38
NC_000016.9:g.50763789G>C , CM000678.1:g.50763789G>C	GRCh37
NC_000016.8:g.49321290G>C	NCBI36
NG_007508.1:g.37740G>C , LRG_177:g.37740G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*60G>C	ENSP00000493088.1:n.*60G>C
ENST00000646677.2:c.*711G>C	ENSP00000496533.1:n.*711G>C
ENST00000697428.1:n.2424G>C
ENST00000641284.1:c.*60G>C	ENSP00000493088.1:n.*60G>C
ENST00000646677.1:c.*711G>C	ENSP00000496533.1:n.*711G>C
ENST00000647318.2:c.2946G>C MANE Select	ENSP00000495993.1:p.Arg982Ser
ENST00000300589.6:c.3027G>C	ENSP00000300589.2:p.Arg1009Ser
NM_001293557.1:c.2946G>C	NP_001280486.1:p.Arg982Ser
NM_022162.2:c.3027G>C	NP_071445.1:p.Arg1009Ser
XM_005256084.2:c.2946G>C	XP_005256141.1:p.Arg982Ser
XM_006721242.2:c.2862G>C	XP_006721305.1:p.Arg954Ser
XM_011523257.1:c.2523G>C	XP_011521559.1:p.Arg841Ser
XM_011523258.1:c.2523G>C	XP_011521560.1:p.Arg841Ser
XM_011523259.1:c.2361G>C	XP_011521561.1:p.Arg787Ser
XM_005256084.4:c.2946G>C	XP_005256141.1:p.Arg982Ser
XM_006721242.4:c.2862G>C	XP_006721305.1:p.Arg954Ser
XM_011523259.2:c.2361G>C	XP_011521561.1:p.Arg787Ser
XM_017023535.1:c.2454G>C	XP_016879024.1:p.Arg818Ser
XM_017023536.1:c.2361G>C	XP_016879025.1:p.Arg787Ser
XM_017023537.1:c.2361G>C	XP_016879026.1:p.Arg787Ser
XM_017023538.1:c.2361G>C	XP_016879027.1:p.Arg787Ser
NM_001293557.2:c.2946G>C	NP_001280486.1:p.Arg982Ser
NM_001370466.1:c.2946G>C MANE Select	NP_001357395.1:p.Arg982Ser
NM_022162.3:c.3027G>C	NP_071445.1:p.Arg1009Ser
NR_163434.1:n.3158G>C