Canonical Allele Identifier: CA129325
Gene: NOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4691

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50729870dup , CM000678.2:g.50729870dup GRCh38
NC_000016.9:g.50763781dup , CM000678.1:g.50763781dup GRCh37
NC_000016.8:g.49321282dup NCBI36
NG_007508.1:g.37732dup , LRG_177:g.37732dup

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.1:c.*52dup ENSP00000493088.1:n.*52dup
ENST00000646677.1:c.*703dup ENSP00000496533.1:n.*703dup
ENST00000647318.2:c.2938dup MANE Select ENSP00000495993.1:p.Leu980ProfsTer2
ENST00000300589.6:c.3019dup ENSP00000300589.2:p.Leu1007ProfsTer2
NM_001293557.1:c.2938dup NP_001280486.1:p.Leu980ProfsTer2
NM_022162.2:c.3019dup NP_071445.1:p.Leu1007ProfsTer2
XM_005256084.2:c.2938dup XP_005256141.1:p.Leu980ProfsTer2
XM_006721242.2:c.2854dup XP_006721305.1:p.Leu952ProfsTer2
XM_011523257.1:c.2515dup XP_011521559.1:p.Leu839ProfsTer2
XM_011523258.1:c.2515dup XP_011521560.1:p.Leu839ProfsTer2
XM_011523259.1:c.2353dup XP_011521561.1:p.Leu785ProfsTer2
XM_005256084.4:c.2938dup XP_005256141.1:p.Leu980ProfsTer2
XM_006721242.4:c.2854dup XP_006721305.1:p.Leu952ProfsTer2
XM_011523259.2:c.2353dup XP_011521561.1:p.Leu785ProfsTer2
XM_017023535.1:c.2446dup XP_016879024.1:p.Leu816ProfsTer2
XM_017023536.1:c.2353dup XP_016879025.1:p.Leu785ProfsTer2
XM_017023537.1:c.2353dup XP_016879026.1:p.Leu785ProfsTer2
XM_017023538.1:c.2353dup XP_016879027.1:p.Leu785ProfsTer2
NM_001293557.2:c.2938dup NP_001280486.1:p.Leu980ProfsTer2
NM_001370466.1:c.2938dup MANE Select NP_001357395.1:p.Leu980ProfsTer2
NM_022162.3:c.3019dup NP_071445.1:p.Leu1007ProfsTer2
NR_163434.1:n.3150dup