Canonical Allele Identifier: CA395868016
Community Standard Title: NM_001370466.1(NOD2):c.917G>C (p.Cys306Ser)
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710909G>C , CM000678.2:g.50710909G>C GRCh38
NC_000016.9:g.50744820G>C , CM000678.1:g.50744820G>C GRCh37
NC_000016.8:g.49302321G>C NCBI36
NG_007508.1:g.18771G>C , LRG_177:g.18771G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001370466.1:c.917G>C MANE Select NP_001357395.1:p.Cys306Ser
ENST00000647318.2:c.917G>C MANE Select ENSP00000495993.1:p.Cys306Ser
NM_001293557.1:c.917G>C NP_001280486.1:p.Cys306Ser
NM_001293557.2:c.917G>C NP_001280486.1:p.Cys306Ser
NM_022162.2:c.998G>C NP_071445.1:p.Cys333Ser
NM_022162.3:c.998G>C NP_071445.1:p.Cys333Ser
NR_163434.1:n.982G>C
ENST00000300589.6:c.998G>C ENSP00000300589.2:p.Cys333Ser
ENST00000526417.6:n.1058G>C
ENST00000641284.1:c.917G>C ENSP00000493088.1:p.Cys306Ser
ENST00000641284.2:c.917G>C ENSP00000493088.1:p.Cys306Ser
ENST00000646677.1:c.917G>C ENSP00000496533.1:p.Cys306Ser
ENST00000646677.2:c.917G>C ENSP00000496533.1:p.Cys306Ser
XM_005256084.2:c.917G>C XP_005256141.1:p.Cys306Ser
XM_005256084.4:c.917G>C XP_005256141.1:p.Cys306Ser
XM_006721242.2:c.917G>C XP_006721305.1:p.Cys306Ser
XM_006721242.4:c.917G>C XP_006721305.1:p.Cys306Ser
XM_006721243.2:c.917G>C XP_006721306.1:p.Cys306Ser
XM_006721243.4:c.917G>C XP_006721306.1:p.Cys306Ser
XM_011523257.1:c.494G>C XP_011521559.1:p.Cys165Ser
XM_011523258.1:c.494G>C XP_011521560.1:p.Cys165Ser
XM_011523259.1:c.332G>C XP_011521561.1:p.Cys111Ser
XM_011523259.2:c.332G>C XP_011521561.1:p.Cys111Ser
XM_011523260.1:c.917G>C XP_011521562.1:p.Cys306Ser
XM_011523260.3:c.917G>C XP_011521562.1:p.Cys306Ser
XM_011523261.1:c.917G>C XP_011521563.1:p.Cys306Ser
XM_011523261.2:c.917G>C XP_011521563.1:p.Cys306Ser
XM_017023535.1:c.425G>C XP_016879024.1:p.Cys142Ser
XM_017023536.1:c.332G>C XP_016879025.1:p.Cys111Ser
XM_017023537.1:c.332G>C XP_016879026.1:p.Cys111Ser
XM_017023538.1:c.332G>C XP_016879027.1:p.Cys111Ser
XR_429725.2:n.1007G>C
XR_429725.3:n.960G>C
XR_429726.2:n.1007G>C
XR_429726.3:n.960G>C
XR_933387.1:n.1007G>C
XR_933387.2:n.960G>C