Canonical Allele Identifier: CA10637860

Gene: NOD2

Linked Data

• ClinVar Variation Id: 319484
• ClinVar RCV Id: RCV000330041 ; RCV001782844 ; RCV003409499
• dbSNP Id: rs562972090
• gnomAD v2: 16-50766192-C-A
• gnomAD v3: 16-50732281-C-A
• gnomAD v4: 16-50732281-C-A
• MyVariant Identifiers: chr16:g.50766192C>A (hg19) ; chr16:g.50732281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50732281C>A , CM000678.2:g.50732281C>A	GRCh38
NC_000016.9:g.50766192C>A , CM000678.1:g.50766192C>A	GRCh37
NC_000016.8:g.49323693C>A	NCBI36
NG_007508.1:g.40143C>A , LRG_177:g.40143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*618C>A	ENSP00000493088.1:n.*618C>A
ENST00000646677.2:c.*1269C>A	ENSP00000496533.1:n.*1269C>A
ENST00000697428.1:n.2982C>A
ENST00000641284.1:c.*618C>A	ENSP00000493088.1:n.*618C>A
ENST00000646677.1:c.*1269C>A	ENSP00000496533.1:n.*1269C>A
ENST00000647318.2:c.*462C>A MANE Select	ENSP00000495993.1:n.*462C>A
ENST00000300589.6:c.*462C>A	ENSP00000300589.2:n.*462C>A
NM_001293557.1:c.*462C>A	NP_001280486.1:n.*462C>A
NM_022162.2:c.*462C>A	NP_071445.1:n.*462C>A
XM_005256084.2:c.*462C>A	XP_005256141.1:n.*462C>A
XM_006721242.2:c.*462C>A	XP_006721305.1:n.*462C>A
XM_011523257.1:c.*462C>A	XP_011521559.1:n.*462C>A
XM_011523258.1:c.*462C>A	XP_011521560.1:n.*462C>A
XM_011523259.1:c.*462C>A	XP_011521561.1:n.*462C>A
XM_005256084.4:c.*462C>A	XP_005256141.1:n.*462C>A
XM_006721242.4:c.*462C>A	XP_006721305.1:n.*462C>A
XM_011523259.2:c.*462C>A	XP_011521561.1:n.*462C>A
XM_017023535.1:c.*462C>A	XP_016879024.1:n.*462C>A
XM_017023536.1:c.*462C>A	XP_016879025.1:n.*462C>A
XM_017023537.1:c.*462C>A	XP_016879026.1:n.*462C>A
XM_017023538.1:c.*462C>A	XP_016879027.1:n.*462C>A
NM_001293557.2:c.*462C>A	NP_001280486.1:n.*462C>A
NM_001370466.1:c.*462C>A MANE Select	NP_001357395.1:n.*462C>A
NM_022162.3:c.*462C>A	NP_071445.1:n.*462C>A
NR_163434.1:n.3716C>A