Canonical Allele Identifier: CA495473344
Gene: NOD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.50756593T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722682T>C , CM000678.2:g.50722682T>C GRCh38
NC_000016.9:g.50756593T>C , CM000678.1:g.50756593T>C GRCh37
NC_000016.8:g.49314094T>C NCBI36
NG_007508.1:g.30544T>C , LRG_177:g.30544T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7136T>C ENSP00000493088.1:n.2382-7136T>C
ENST00000646677.2:c.*459T>C ENSP00000496533.1:n.*459T>C
ENST00000697425.1:c.521T>C
ENST00000697426.1:c.409T>C
ENST00000697427.1:c.325T>C
ENST00000697428.1:n.2172T>C
ENST00000641284.1:c.2382-7136T>C ENSP00000493088.1:n.2382-7136T>C
ENST00000646677.1:c.*459T>C ENSP00000496533.1:n.*459T>C
ENST00000647318.2:c.2694T>C MANE Select ENSP00000495993.1:p.Asp898=
ENST00000300589.6:c.2775T>C ENSP00000300589.2:p.Asp925=
ENST00000524712.5:c.269T>C
ENST00000527052.5:c.241T>C
ENST00000529633.5:c.353T>C
ENST00000534057.1:c.409T>C
ENST00000534067.5:c.505T>C
NM_001293557.1:c.2694T>C NP_001280486.1:p.Asp898=
NM_022162.2:c.2775T>C NP_071445.1:p.Asp925=
XM_005256084.2:c.2694T>C XP_005256141.1:p.Asp898=
XM_006721242.2:c.2610T>C XP_006721305.1:p.Asp870=
XM_011523257.1:c.2271T>C XP_011521559.1:p.Asp757=
XM_011523258.1:c.2271T>C XP_011521560.1:p.Asp757=
XM_011523259.1:c.2109T>C XP_011521561.1:p.Asp703=
XR_429725.2:n.2616T>C
XR_429726.2:n.2532T>C
XR_933387.1:n.2812T>C
XM_005256084.4:c.2694T>C XP_005256141.1:p.Asp898=
XM_006721242.4:c.2610T>C XP_006721305.1:p.Asp870=
XM_011523259.2:c.2109T>C XP_011521561.1:p.Asp703=
XM_017023535.1:c.2202T>C XP_016879024.1:p.Asp734=
XM_017023536.1:c.2109T>C XP_016879025.1:p.Asp703=
XM_017023537.1:c.2109T>C XP_016879026.1:p.Asp703=
XM_017023538.1:c.2109T>C XP_016879027.1:p.Asp703=
XR_429725.3:n.2569T>C
XR_429726.3:n.2485T>C
XR_933387.2:n.2765T>C
NM_001293557.2:c.2694T>C NP_001280486.1:p.Asp898=
NM_001370466.1:c.2694T>C MANE Select NP_001357395.1:p.Asp898=
NM_022162.3:c.2775T>C NP_071445.1:p.Asp925=
NR_163434.1:n.2906T>C