Canonical Allele Identifier: CA2573152311

Gene: NOD2

Linked Data

• ClinVar Variation Id: 1471902
• ClinVar RCV Id: RCV002571317
• dbSNP Id: rs2150808264

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710860dup , CM000678.2:g.50710860dup	GRCh38
NC_000016.9:g.50744771dup , CM000678.1:g.50744771dup	GRCh37
NC_000016.8:g.49302272dup	NCBI36
NG_007508.1:g.18722dup , LRG_177:g.18722dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.868dup	ENSP00000493088.1:p.Ala290GlyfsTer?
ENST00000646677.2:c.868dup	ENSP00000496533.1:p.Ala290GlyfsTer?
ENST00000641284.1:c.868dup	ENSP00000493088.1:p.Ala290GlyfsTer?
ENST00000646677.1:c.868dup	ENSP00000496533.1:p.Ala290GlyfsTer?
ENST00000647318.2:c.868dup MANE Select	ENSP00000495993.1:p.Ala290GlyfsTer?
ENST00000300589.6:c.949dup	ENSP00000300589.2:p.Ala317GlyfsTer?
ENST00000526417.6:n.1009dup
NM_001293557.1:c.868dup	NP_001280486.1:p.Ala290GlyfsTer?
NM_022162.2:c.949dup	NP_071445.1:p.Ala317GlyfsTer?
XM_005256084.2:c.868dup	XP_005256141.1:p.Ala290GlyfsTer?
XM_006721242.2:c.868dup	XP_006721305.1:p.Ala290GlyfsTer?
XM_006721243.2:c.868dup	XP_006721306.1:p.Ala290GlyfsTer?
XM_011523257.1:c.445dup	XP_011521559.1:p.Ala149GlyfsTer?
XM_011523258.1:c.445dup	XP_011521560.1:p.Ala149GlyfsTer?
XM_011523259.1:c.283dup	XP_011521561.1:p.Ala95GlyfsTer?
XM_011523260.1:c.868dup	XP_011521562.1:p.Ala290GlyfsTer?
XM_011523261.1:c.868dup	XP_011521563.1:p.Ala290GlyfsTer?
XR_429725.2:n.958dup
XR_429726.2:n.958dup
XR_933387.1:n.958dup
XM_005256084.4:c.868dup	XP_005256141.1:p.Ala290GlyfsTer?
XM_006721242.4:c.868dup	XP_006721305.1:p.Ala290GlyfsTer?
XM_006721243.4:c.868dup	XP_006721306.1:p.Ala290GlyfsTer?
XM_011523259.2:c.283dup	XP_011521561.1:p.Ala95GlyfsTer?
XM_011523260.3:c.868dup	XP_011521562.1:p.Ala290GlyfsTer?
XM_011523261.2:c.868dup	XP_011521563.1:p.Ala290GlyfsTer?
XM_017023535.1:c.376dup	XP_016879024.1:p.Ala126GlyfsTer?
XM_017023536.1:c.283dup	XP_016879025.1:p.Ala95GlyfsTer?
XM_017023537.1:c.283dup	XP_016879026.1:p.Ala95GlyfsTer?
XM_017023538.1:c.283dup	XP_016879027.1:p.Ala95GlyfsTer?
XR_429725.3:n.911dup
XR_429726.3:n.911dup
XR_933387.2:n.911dup
NM_001293557.2:c.868dup	NP_001280486.1:p.Ala290GlyfsTer?
NM_001370466.1:c.868dup MANE Select	NP_001357395.1:p.Ala290GlyfsTer?
NM_022162.3:c.949dup	NP_071445.1:p.Ala317GlyfsTer?
NR_163434.1:n.933dup