Canonical Allele Identifier: CA622654310

Gene: NOD2

Linked Data

• ClinVar Variation Id: 638429
• ClinVar RCV Id: RCV000791082
• dbSNP Id: rs1201050964
• gnomAD v2: 16-50745852-TC-T
• gnomAD v4: 16-50711941-TC-T
• MyVariant Identifiers: chr16:g.50745853del (hg19) ; chr16:g.50711942del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711943del , CM000678.2:g.50711943del	GRCh38
NC_000016.9:g.50745854del , CM000678.1:g.50745854del	GRCh37
NC_000016.8:g.49303355del	NCBI36
NG_007508.1:g.19805del , LRG_177:g.19805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1951del	ENSP00000493088.1:p.Leu651TrpfsTer?
ENST00000646677.2:c.1951del	ENSP00000496533.1:p.Leu651TrpfsTer?
ENST00000641284.1:c.1951del	ENSP00000493088.1:p.Leu651TrpfsTer?
ENST00000646677.1:c.1951del	ENSP00000496533.1:p.Leu651TrpfsTer?
ENST00000647318.2:c.1951del MANE Select	ENSP00000495993.1:p.Leu651TrpfsTer?
ENST00000300589.6:c.2032del	ENSP00000300589.2:p.Leu678TrpfsTer?
NM_001293557.1:c.1951del	NP_001280486.1:p.Leu651TrpfsTer?
NM_022162.2:c.2032del	NP_071445.1:p.Leu678TrpfsTer?
XM_005256084.2:c.1951del	XP_005256141.1:p.Leu651TrpfsTer?
XM_006721242.2:c.1951del	XP_006721305.1:p.Leu651TrpfsTer?
XM_006721243.2:c.1951del	XP_006721306.1:p.Leu651TrpfsTer?
XM_011523257.1:c.1528del	XP_011521559.1:p.Leu510TrpfsTer?
XM_011523258.1:c.1528del	XP_011521560.1:p.Leu510TrpfsTer?
XM_011523259.1:c.1366del	XP_011521561.1:p.Leu456TrpfsTer?
XM_011523260.1:c.1951del	XP_011521562.1:p.Leu651TrpfsTer?
XM_011523261.1:c.1951del	XP_011521563.1:p.Leu651TrpfsTer?
XR_429725.2:n.2041del
XR_429726.2:n.2041del
XR_933387.1:n.2041del
XM_005256084.4:c.1951del	XP_005256141.1:p.Leu651TrpfsTer?
XM_006721242.4:c.1951del	XP_006721305.1:p.Leu651TrpfsTer?
XM_006721243.4:c.1951del	XP_006721306.1:p.Leu651TrpfsTer?
XM_011523259.2:c.1366del	XP_011521561.1:p.Leu456TrpfsTer?
XM_011523260.3:c.1951del	XP_011521562.1:p.Leu651TrpfsTer?
XM_011523261.2:c.1951del	XP_011521563.1:p.Leu651TrpfsTer?
XM_017023535.1:c.1459del	XP_016879024.1:p.Leu487TrpfsTer?
XM_017023536.1:c.1366del	XP_016879025.1:p.Leu456TrpfsTer?
XM_017023537.1:c.1366del	XP_016879026.1:p.Leu456TrpfsTer?
XM_017023538.1:c.1366del	XP_016879027.1:p.Leu456TrpfsTer?
XR_429725.3:n.1994del
XR_429726.3:n.1994del
XR_933387.2:n.1994del
NM_001293557.2:c.1951del	NP_001280486.1:p.Leu651TrpfsTer?
NM_001370466.1:c.1951del MANE Select	NP_001357395.1:p.Leu651TrpfsTer?
NM_022162.3:c.2032del	NP_071445.1:p.Leu678TrpfsTer?
NR_163434.1:n.2016del