Canonical Allele Identifier: CA10643729

Gene: NOD2

Linked Data

• ClinVar Variation Id: 319479
• ClinVar RCV Id: RCV000266554 ; RCV000302740
• dbSNP Id: rs886052047
• MyVariant Identifiers: chr16:g.50766059_50766064dupCCCATG (hg19) ; chr16:g.50732148_50732153dupCCCATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50732148_50732153dup , CM000678.2:g.50732148_50732153dup	GRCh38
NC_000016.9:g.50766059_50766064dup , CM000678.1:g.50766059_50766064dup	GRCh37
NC_000016.8:g.49323560_49323565dup	NCBI36
NG_007508.1:g.40010_40015dup , LRG_177:g.40010_40015dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*485_*490dup	ENSP00000493088.1:n.*485_*490dup
ENST00000646677.2:c.*1136_*1141dup	ENSP00000496533.1:n.*1136_*1141dup
ENST00000697428.1:n.2849_2854dup
ENST00000641284.1:c.*485_*490dup	ENSP00000493088.1:n.*485_*490dup
ENST00000646677.1:c.*1136_*1141dup	ENSP00000496533.1:n.*1136_*1141dup
ENST00000647318.2:c.*329_*334dup MANE Select	ENSP00000495993.1:n.*329_*334dup
ENST00000300589.6:c.*329_*334dup	ENSP00000300589.2:n.*329_*334dup
NM_001293557.1:c.*329_*334dup	NP_001280486.1:n.*329_*334dup
NM_022162.2:c.*329_*334dup	NP_071445.1:n.*329_*334dup
XM_005256084.2:c.*329_*334dup	XP_005256141.1:n.*329_*334dup
XM_006721242.2:c.*329_*334dup	XP_006721305.1:n.*329_*334dup
XM_011523257.1:c.*329_*334dup	XP_011521559.1:n.*329_*334dup
XM_011523258.1:c.*329_*334dup	XP_011521560.1:n.*329_*334dup
XM_011523259.1:c.*329_*334dup	XP_011521561.1:n.*329_*334dup
XM_005256084.4:c.*329_*334dup	XP_005256141.1:n.*329_*334dup
XM_006721242.4:c.*329_*334dup	XP_006721305.1:n.*329_*334dup
XM_011523259.2:c.*329_*334dup	XP_011521561.1:n.*329_*334dup
XM_017023535.1:c.*329_*334dup	XP_016879024.1:n.*329_*334dup
XM_017023536.1:c.*329_*334dup	XP_016879025.1:n.*329_*334dup
XM_017023537.1:c.*329_*334dup	XP_016879026.1:n.*329_*334dup
XM_017023538.1:c.*329_*334dup	XP_016879027.1:n.*329_*334dup
NM_001293557.2:c.*329_*334dup	NP_001280486.1:n.*329_*334dup
NM_001370466.1:c.*329_*334dup MANE Select	NP_001357395.1:n.*329_*334dup
NM_022162.3:c.*329_*334dup	NP_071445.1:n.*329_*334dup
NR_163434.1:n.3583_3588dup