Canonical Allele Identifier: CA2221858990

Gene: NOD2

Linked Data

• dbSNP Id: rs1964416558

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710574del , CM000678.2:g.50710574del	GRCh38
NC_000016.9:g.50744485del , CM000678.1:g.50744485del	GRCh37
NC_000016.8:g.49301986del	NCBI36
NG_007508.1:g.18436del , LRG_177:g.18436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.582del	ENSP00000493088.1:p.Lys194AsnfsTer6
ENST00000646677.2:c.582del	ENSP00000496533.1:p.Lys194AsnfsTer6
ENST00000641284.1:c.582del	ENSP00000493088.1:p.Lys194AsnfsTer6
ENST00000646677.1:c.582del	ENSP00000496533.1:p.Lys194AsnfsTer6
ENST00000647318.2:c.582del MANE Select	ENSP00000495993.1:p.Lys194AsnfsTer6
ENST00000300589.6:c.663del	ENSP00000300589.2:p.Lys221AsnfsTer6
ENST00000526417.6:n.723del
ENST00000527070.5:c.*1278del	ENSP00000435149.1:n.*1278del
ENST00000532206.1:n.661del
NM_001293557.1:c.582del	NP_001280486.1:p.Lys194AsnfsTer6
NM_022162.2:c.663del	NP_071445.1:p.Lys221AsnfsTer6
XM_005256084.2:c.582del	XP_005256141.1:p.Lys194AsnfsTer6
XM_006721242.2:c.582del	XP_006721305.1:p.Lys194AsnfsTer6
XM_006721243.2:c.582del	XP_006721306.1:p.Lys194AsnfsTer6
XM_011523257.1:c.159del	XP_011521559.1:p.Lys53AsnfsTer6
XM_011523258.1:c.159del	XP_011521560.1:p.Lys53AsnfsTer6
XM_011523259.1:c.-4del	XP_011521561.1:n.-4del
XM_011523260.1:c.582del	XP_011521562.1:p.Lys194AsnfsTer6
XM_011523261.1:c.582del	XP_011521563.1:p.Lys194AsnfsTer6
XR_429725.2:n.672del
XR_429726.2:n.672del
XR_933387.1:n.672del
XM_005256084.4:c.582del	XP_005256141.1:p.Lys194AsnfsTer6
XM_006721242.4:c.582del	XP_006721305.1:p.Lys194AsnfsTer6
XM_006721243.4:c.582del	XP_006721306.1:p.Lys194AsnfsTer6
XM_011523259.2:c.-4del	XP_011521561.1:n.-4del
XM_011523260.3:c.582del	XP_011521562.1:p.Lys194AsnfsTer6
XM_011523261.2:c.582del	XP_011521563.1:p.Lys194AsnfsTer6
XM_017023535.1:c.90del	XP_016879024.1:p.Lys30AsnfsTer6
XM_017023536.1:c.-4del	XP_016879025.1:n.-4del
XM_017023537.1:c.-4del	XP_016879026.1:n.-4del
XM_017023538.1:c.-4del	XP_016879027.1:n.-4del
XR_429725.3:n.625del
XR_429726.3:n.625del
XR_933387.2:n.625del
NM_001293557.2:c.582del	NP_001280486.1:p.Lys194AsnfsTer6
NM_001370466.1:c.582del MANE Select	NP_001357395.1:p.Lys194AsnfsTer6
NM_022162.3:c.663del	NP_071445.1:p.Lys221AsnfsTer6
NR_163434.1:n.647del