Canonical Allele Identifier: CA8051295
Gene: NOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 844606
ClinVar RCV Id: RCV002552621
dbSNP Id: rs770524298

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699932C>T , CM000678.2:g.50699932C>T GRCh38
NC_000016.9:g.50733843C>T , CM000678.1:g.50733843C>T GRCh37
NC_000016.8:g.49291344C>T NCBI36
NG_007508.1:g.7794C>T , LRG_177:g.7794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.437C>T ENSP00000493088.1:p.Pro146Leu
ENST00000646677.2:c.437C>T ENSP00000496533.1:p.Pro146Leu
ENST00000641284.1:c.437C>T ENSP00000493088.1:p.Pro146Leu
ENST00000646677.1:c.437C>T ENSP00000496533.1:p.Pro146Leu
ENST00000647318.2:c.437C>T MANE Select ENSP00000495993.1:p.Pro146Leu
ENST00000300589.6:c.518C>T ENSP00000300589.2:p.Pro173Leu
ENST00000526417.6:n.505C>T
ENST00000527070.5:c.*1133C>T ENSP00000435149.1:n.*1133C>T
ENST00000531674.1:c.437C>T ENSP00000431681.1:p.Pro146Leu
ENST00000532206.1:n.622C>T
NM_001293557.1:c.437C>T NP_001280486.1:p.Pro146Leu
NM_022162.2:c.518C>T NP_071445.1:p.Pro173Leu
XM_005256084.2:c.437C>T XP_005256141.1:p.Pro146Leu
XM_006721242.2:c.437C>T XP_006721305.1:p.Pro146Leu
XM_006721243.2:c.437C>T XP_006721306.1:p.Pro146Leu
XM_011523257.1:c.-60C>T XP_011521559.1:n.-60C>T
XM_011523258.1:c.-38+6270C>T XP_011521560.1:n.-38+6270C>T
XM_011523259.1:c.-43C>T XP_011521561.1:n.-43C>T
XM_011523260.1:c.437C>T XP_011521562.1:p.Pro146Leu
XM_011523261.1:c.437C>T XP_011521563.1:p.Pro146Leu
XR_429725.2:n.527C>T
XR_429726.2:n.527C>T
XR_933387.1:n.527C>T
XM_005256084.4:c.437C>T XP_005256141.1:p.Pro146Leu
XM_006721242.4:c.437C>T XP_006721305.1:p.Pro146Leu
XM_006721243.4:c.437C>T XP_006721306.1:p.Pro146Leu
XM_011523259.2:c.-43C>T XP_011521561.1:n.-43C>T
XM_011523260.3:c.437C>T XP_011521562.1:p.Pro146Leu
XM_011523261.2:c.437C>T XP_011521563.1:p.Pro146Leu
XM_017023536.1:c.-127+6270C>T XP_016879025.1:n.-127+6270C>T
XM_017023537.1:c.-21+6270C>T XP_016879026.1:n.-21+6270C>T
XR_429725.3:n.480C>T
XR_429726.3:n.480C>T
XR_933387.2:n.480C>T
NM_001293557.2:c.437C>T NP_001280486.1:p.Pro146Leu
NM_001370466.1:c.437C>T MANE Select NP_001357395.1:p.Pro146Leu
NM_022162.3:c.518C>T NP_071445.1:p.Pro173Leu
NR_163434.1:n.502C>T