Canonical Allele Identifier: CA495472848
Gene: NOD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.50756551G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722640G>C , CM000678.2:g.50722640G>C GRCh38
NC_000016.9:g.50756551G>C , CM000678.1:g.50756551G>C GRCh37
NC_000016.8:g.49314052G>C NCBI36
NG_007508.1:g.30502G>C , LRG_177:g.30502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7178G>C ENSP00000493088.1:n.2382-7178G>C
ENST00000646677.2:c.*417G>C ENSP00000496533.1:n.*417G>C
ENST00000697425.1:c.479G>C
ENST00000697426.1:c.367G>C
ENST00000697427.1:c.283G>C
ENST00000697428.1:n.2130G>C
ENST00000641284.1:c.2382-7178G>C ENSP00000493088.1:n.2382-7178G>C
ENST00000646677.1:c.*417G>C ENSP00000496533.1:n.*417G>C
ENST00000647318.2:c.2652G>C MANE Select ENSP00000495993.1:p.Val884=
ENST00000300589.6:c.2733G>C ENSP00000300589.2:p.Val911=
ENST00000524712.5:c.227G>C
ENST00000527052.5:c.199G>C
ENST00000529633.5:c.311G>C
ENST00000534057.1:c.367G>C
ENST00000534067.5:c.463G>C
NM_001293557.1:c.2652G>C NP_001280486.1:p.Val884=
NM_022162.2:c.2733G>C NP_071445.1:p.Val911=
XM_005256084.2:c.2652G>C XP_005256141.1:p.Val884=
XM_006721242.2:c.2568G>C XP_006721305.1:p.Val856=
XM_011523257.1:c.2229G>C XP_011521559.1:p.Val743=
XM_011523258.1:c.2229G>C XP_011521560.1:p.Val743=
XM_011523259.1:c.2067G>C XP_011521561.1:p.Val689=
XR_429725.2:n.2574G>C
XR_429726.2:n.2490G>C
XR_933387.1:n.2770G>C
XM_005256084.4:c.2652G>C XP_005256141.1:p.Val884=
XM_006721242.4:c.2568G>C XP_006721305.1:p.Val856=
XM_011523259.2:c.2067G>C XP_011521561.1:p.Val689=
XM_017023535.1:c.2160G>C XP_016879024.1:p.Val720=
XM_017023536.1:c.2067G>C XP_016879025.1:p.Val689=
XM_017023537.1:c.2067G>C XP_016879026.1:p.Val689=
XM_017023538.1:c.2067G>C XP_016879027.1:p.Val689=
XR_429725.3:n.2527G>C
XR_429726.3:n.2443G>C
XR_933387.2:n.2723G>C
NM_001293557.2:c.2652G>C NP_001280486.1:p.Val884=
NM_001370466.1:c.2652G>C MANE Select NP_001357395.1:p.Val884=
NM_022162.3:c.2733G>C NP_071445.1:p.Val911=
NR_163434.1:n.2864G>C