Canonical Allele Identifier: CA622654300

Gene: NOD2

Linked Data

• gnomAD v2: 16-50745390-TG-T
• gnomAD v4: 16-50711479-TG-T
• MyVariant Identifiers: chr16:g.50745391del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711480del , CM000678.2:g.50711480del	GRCh38
NC_000016.9:g.50745391del , CM000678.1:g.50745391del	GRCh37
NC_000016.8:g.49302892del	NCBI36
NG_007508.1:g.19342del , LRG_177:g.19342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1488del	ENSP00000493088.1:p.His497MetfsTer?
ENST00000646677.2:c.1488del	ENSP00000496533.1:p.His497MetfsTer?
ENST00000641284.1:c.1488del	ENSP00000493088.1:p.His497MetfsTer?
ENST00000646677.1:c.1488del	ENSP00000496533.1:p.His497MetfsTer?
ENST00000647318.2:c.1488del MANE Select	ENSP00000495993.1:p.His497MetfsTer?
ENST00000300589.6:c.1569del	ENSP00000300589.2:p.His524MetfsTer?
NM_001293557.1:c.1488del	NP_001280486.1:p.His497MetfsTer?
NM_022162.2:c.1569del	NP_071445.1:p.His524MetfsTer?
XM_005256084.2:c.1488del	XP_005256141.1:p.His497MetfsTer?
XM_006721242.2:c.1488del	XP_006721305.1:p.His497MetfsTer?
XM_006721243.2:c.1488del	XP_006721306.1:p.His497MetfsTer?
XM_011523257.1:c.1065del	XP_011521559.1:p.His356MetfsTer?
XM_011523258.1:c.1065del	XP_011521560.1:p.His356MetfsTer?
XM_011523259.1:c.903del	XP_011521561.1:p.His302MetfsTer?
XM_011523260.1:c.1488del	XP_011521562.1:p.His497MetfsTer?
XM_011523261.1:c.1488del	XP_011521563.1:p.His497MetfsTer?
XR_429725.2:n.1578del
XR_429726.2:n.1578del
XR_933387.1:n.1578del
XM_005256084.4:c.1488del	XP_005256141.1:p.His497MetfsTer?
XM_006721242.4:c.1488del	XP_006721305.1:p.His497MetfsTer?
XM_006721243.4:c.1488del	XP_006721306.1:p.His497MetfsTer?
XM_011523259.2:c.903del	XP_011521561.1:p.His302MetfsTer?
XM_011523260.3:c.1488del	XP_011521562.1:p.His497MetfsTer?
XM_011523261.2:c.1488del	XP_011521563.1:p.His497MetfsTer?
XM_017023535.1:c.996del	XP_016879024.1:p.His333MetfsTer?
XM_017023536.1:c.903del	XP_016879025.1:p.His302MetfsTer?
XM_017023537.1:c.903del	XP_016879026.1:p.His302MetfsTer?
XM_017023538.1:c.903del	XP_016879027.1:p.His302MetfsTer?
XR_429725.3:n.1531del
XR_429726.3:n.1531del
XR_933387.2:n.1531del
NM_001293557.2:c.1488del	NP_001280486.1:p.His497MetfsTer?
NM_001370466.1:c.1488del MANE Select	NP_001357395.1:p.His497MetfsTer?
NM_022162.3:c.1569del	NP_071445.1:p.His524MetfsTer?
NR_163434.1:n.1553del