Canonical Allele Identifier: CA395869074

Gene: NOD2

Linked Data

• dbSNP Id: rs1567392321
• gnomAD v2: 16-50745330-A-C
• gnomAD v4: 16-50711419-A-C
• MyVariant Identifiers: chr16:g.50745330A>C (hg19) ; chr16:g.50745330_50745331delinsCG (hg19) ; chr16:g.50711419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711419A>C , CM000678.2:g.50711419A>C	GRCh38
NC_000016.9:g.50745330A>C , CM000678.1:g.50745330A>C	GRCh37
NC_000016.8:g.49302831A>C	NCBI36
NG_007508.1:g.19281A>C , LRG_177:g.19281A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.1427A>C	ENSP00000493088.1:p.Glu476Ala
ENST00000646677.2:c.1427A>C	ENSP00000496533.1:p.Glu476Ala
ENST00000641284.1:c.1427A>C	ENSP00000493088.1:p.Glu476Ala
ENST00000646677.1:c.1427A>C	ENSP00000496533.1:p.Glu476Ala
ENST00000647318.2:c.1427A>C MANE Select	ENSP00000495993.1:p.Glu476Ala
ENST00000300589.6:c.1508A>C	ENSP00000300589.2:p.Glu503Ala
NM_001293557.1:c.1427A>C	NP_001280486.1:p.Glu476Ala
NM_022162.2:c.1508A>C	NP_071445.1:p.Glu503Ala
XM_005256084.2:c.1427A>C	XP_005256141.1:p.Glu476Ala
XM_006721242.2:c.1427A>C	XP_006721305.1:p.Glu476Ala
XM_006721243.2:c.1427A>C	XP_006721306.1:p.Glu476Ala
XM_011523257.1:c.1004A>C	XP_011521559.1:p.Glu335Ala
XM_011523258.1:c.1004A>C	XP_011521560.1:p.Glu335Ala
XM_011523259.1:c.842A>C	XP_011521561.1:p.Glu281Ala
XM_011523260.1:c.1427A>C	XP_011521562.1:p.Glu476Ala
XM_011523261.1:c.1427A>C	XP_011521563.1:p.Glu476Ala
XR_429725.2:n.1517A>C
XR_429726.2:n.1517A>C
XR_933387.1:n.1517A>C
XM_005256084.4:c.1427A>C	XP_005256141.1:p.Glu476Ala
XM_006721242.4:c.1427A>C	XP_006721305.1:p.Glu476Ala
XM_006721243.4:c.1427A>C	XP_006721306.1:p.Glu476Ala
XM_011523259.2:c.842A>C	XP_011521561.1:p.Glu281Ala
XM_011523260.3:c.1427A>C	XP_011521562.1:p.Glu476Ala
XM_011523261.2:c.1427A>C	XP_011521563.1:p.Glu476Ala
XM_017023535.1:c.935A>C	XP_016879024.1:p.Glu312Ala
XM_017023536.1:c.842A>C	XP_016879025.1:p.Glu281Ala
XM_017023537.1:c.842A>C	XP_016879026.1:p.Glu281Ala
XM_017023538.1:c.842A>C	XP_016879027.1:p.Glu281Ala
XR_429725.3:n.1470A>C
XR_429726.3:n.1470A>C
XR_933387.2:n.1470A>C
NM_001293557.2:c.1427A>C	NP_001280486.1:p.Glu476Ala
NM_001370466.1:c.1427A>C MANE Select	NP_001357395.1:p.Glu476Ala
NM_022162.3:c.1508A>C	NP_071445.1:p.Glu503Ala
NR_163434.1:n.1492A>C