Canonical Allele Identifier: CA8052067

Gene: NOD2

Linked Data

• ClinVar Variation Id: 952371
• ClinVar RCV Id: RCV002562593
• dbSNP Id: rs104895491
• ExAC: 16:50765662 C / G
• gnomAD v2: 16-50765662-C-G
• gnomAD v3: 16-50731751-C-G
• gnomAD v4: 16-50731751-C-G
• MyVariant Identifiers: chr16:g.50765662C>G (hg19) ; chr16:g.50731751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50731751C>G , CM000678.2:g.50731751C>G	GRCh38
NC_000016.9:g.50765662C>G , CM000678.1:g.50765662C>G	GRCh37
NC_000016.8:g.49323163C>G	NCBI36
NG_007508.1:g.39613C>G , LRG_177:g.39613C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*88C>G	ENSP00000493088.1:n.*88C>G
ENST00000646677.2:c.*739C>G	ENSP00000496533.1:n.*739C>G
ENST00000697428.1:n.2452C>G
ENST00000641284.1:c.*88C>G	ENSP00000493088.1:n.*88C>G
ENST00000646677.1:c.*739C>G	ENSP00000496533.1:n.*739C>G
ENST00000647318.2:c.2974C>G MANE Select	ENSP00000495993.1:p.Arg992Gly
ENST00000300589.6:c.3055C>G	ENSP00000300589.2:p.Arg1019Gly
NM_001293557.1:c.2974C>G	NP_001280486.1:p.Arg992Gly
NM_022162.2:c.3055C>G	NP_071445.1:p.Arg1019Gly
XM_005256084.2:c.2974C>G	XP_005256141.1:p.Arg992Gly
XM_006721242.2:c.2890C>G	XP_006721305.1:p.Arg964Gly
XM_011523257.1:c.2551C>G	XP_011521559.1:p.Arg851Gly
XM_011523258.1:c.2551C>G	XP_011521560.1:p.Arg851Gly
XM_011523259.1:c.2389C>G	XP_011521561.1:p.Arg797Gly
XM_005256084.4:c.2974C>G	XP_005256141.1:p.Arg992Gly
XM_006721242.4:c.2890C>G	XP_006721305.1:p.Arg964Gly
XM_011523259.2:c.2389C>G	XP_011521561.1:p.Arg797Gly
XM_017023535.1:c.2482C>G	XP_016879024.1:p.Arg828Gly
XM_017023536.1:c.2389C>G	XP_016879025.1:p.Arg797Gly
XM_017023537.1:c.2389C>G	XP_016879026.1:p.Arg797Gly
XM_017023538.1:c.2389C>G	XP_016879027.1:p.Arg797Gly
NM_001293557.2:c.2974C>G	NP_001280486.1:p.Arg992Gly
NM_001370466.1:c.2974C>G MANE Select	NP_001357395.1:p.Arg992Gly
NM_022162.3:c.3055C>G	NP_071445.1:p.Arg1019Gly
NR_163434.1:n.3186C>G