Canonical Allele Identifier: CA8052076

Gene: NOD2

Linked Data

• ClinVar Variation Id: 319475
• ClinVar RCV Id: RCV000295535 ; RCV001782836 ; RCV002522869
• dbSNP Id: rs147874812
• ExAC: 16:50765701 G / A
• gnomAD v2: 16-50765701-G-A
• gnomAD v3: 16-50731790-G-A
• gnomAD v4: 16-50731790-G-A
• MyVariant Identifiers: chr16:g.50765701G>A (hg19) ; chr16:g.50731790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50731790G>A , CM000678.2:g.50731790G>A	GRCh38
NC_000016.9:g.50765701G>A , CM000678.1:g.50765701G>A	GRCh37
NC_000016.8:g.49323202G>A	NCBI36
NG_007508.1:g.39652G>A , LRG_177:g.39652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*127G>A	ENSP00000493088.1:n.*127G>A
ENST00000646677.2:c.*778G>A	ENSP00000496533.1:n.*778G>A
ENST00000697428.1:n.2491G>A
ENST00000641284.1:c.*127G>A	ENSP00000493088.1:n.*127G>A
ENST00000646677.1:c.*778G>A	ENSP00000496533.1:n.*778G>A
ENST00000647318.2:c.3013G>A MANE Select	ENSP00000495993.1:p.Gly1005Ser
ENST00000300589.6:c.3094G>A	ENSP00000300589.2:p.Gly1032Ser
NM_001293557.1:c.3013G>A	NP_001280486.1:p.Gly1005Ser
NM_022162.2:c.3094G>A	NP_071445.1:p.Gly1032Ser
XM_005256084.2:c.3013G>A	XP_005256141.1:p.Gly1005Ser
XM_006721242.2:c.2929G>A	XP_006721305.1:p.Gly977Ser
XM_011523257.1:c.2590G>A	XP_011521559.1:p.Gly864Ser
XM_011523258.1:c.2590G>A	XP_011521560.1:p.Gly864Ser
XM_011523259.1:c.2428G>A	XP_011521561.1:p.Gly810Ser
XM_005256084.4:c.3013G>A	XP_005256141.1:p.Gly1005Ser
XM_006721242.4:c.2929G>A	XP_006721305.1:p.Gly977Ser
XM_011523259.2:c.2428G>A	XP_011521561.1:p.Gly810Ser
XM_017023535.1:c.2521G>A	XP_016879024.1:p.Gly841Ser
XM_017023536.1:c.2428G>A	XP_016879025.1:p.Gly810Ser
XM_017023537.1:c.2428G>A	XP_016879026.1:p.Gly810Ser
XM_017023538.1:c.2428G>A	XP_016879027.1:p.Gly810Ser
NM_001293557.2:c.3013G>A	NP_001280486.1:p.Gly1005Ser
NM_001370466.1:c.3013G>A MANE Select	NP_001357395.1:p.Gly1005Ser
NM_022162.3:c.3094G>A	NP_071445.1:p.Gly1032Ser
NR_163434.1:n.3225G>A