Canonical Allele Identifier: CA395876750

Gene: NOD2

Linked Data

• ClinVar Variation Id: 648165
• ClinVar RCV Id: RCV002261217 ; RCV002534725
• dbSNP Id: rs1282634444
• gnomAD v2: 16-50763760-G-A
• gnomAD v3: 16-50729849-G-A
• gnomAD v4: 16-50729849-G-A
• MyVariant Identifiers: chr16:g.50763760G>A (hg19) ; chr16:g.50729849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729849G>A , CM000678.2:g.50729849G>A	GRCh38
NC_000016.9:g.50763760G>A , CM000678.1:g.50763760G>A	GRCh37
NC_000016.8:g.49321261G>A	NCBI36
NG_007508.1:g.37711G>A , LRG_177:g.37711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*31G>A	ENSP00000493088.1:n.*31G>A
ENST00000646677.2:c.*682G>A	ENSP00000496533.1:n.*682G>A
ENST00000697428.1:n.2395G>A
ENST00000641284.1:c.*31G>A	ENSP00000493088.1:n.*31G>A
ENST00000646677.1:c.*682G>A	ENSP00000496533.1:n.*682G>A
ENST00000647318.2:c.2917G>A MANE Select	ENSP00000495993.1:p.Ala973Thr
ENST00000300589.6:c.2998G>A	ENSP00000300589.2:p.Ala1000Thr
NM_001293557.1:c.2917G>A	NP_001280486.1:p.Ala973Thr
NM_022162.2:c.2998G>A	NP_071445.1:p.Ala1000Thr
XM_005256084.2:c.2917G>A	XP_005256141.1:p.Ala973Thr
XM_006721242.2:c.2833G>A	XP_006721305.1:p.Ala945Thr
XM_011523257.1:c.2494G>A	XP_011521559.1:p.Ala832Thr
XM_011523258.1:c.2494G>A	XP_011521560.1:p.Ala832Thr
XM_011523259.1:c.2332G>A	XP_011521561.1:p.Ala778Thr
XM_005256084.4:c.2917G>A	XP_005256141.1:p.Ala973Thr
XM_006721242.4:c.2833G>A	XP_006721305.1:p.Ala945Thr
XM_011523259.2:c.2332G>A	XP_011521561.1:p.Ala778Thr
XM_017023535.1:c.2425G>A	XP_016879024.1:p.Ala809Thr
XM_017023536.1:c.2332G>A	XP_016879025.1:p.Ala778Thr
XM_017023537.1:c.2332G>A	XP_016879026.1:p.Ala778Thr
XM_017023538.1:c.2332G>A	XP_016879027.1:p.Ala778Thr
NM_001293557.2:c.2917G>A	NP_001280486.1:p.Ala973Thr
NM_001370466.1:c.2917G>A MANE Select	NP_001357395.1:p.Ala973Thr
NM_022162.3:c.2998G>A	NP_071445.1:p.Ala1000Thr
NR_163434.1:n.3129G>A