Canonical Allele Identifier: CA495473458
Gene: NOD2 HGNC NCBI

Linked Data

dbSNP Id: rs1596900632
MyVariant Identifiers: chr16:g.50756602C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722691C>T , CM000678.2:g.50722691C>T GRCh38
NC_000016.9:g.50756602C>T , CM000678.1:g.50756602C>T GRCh37
NC_000016.8:g.49314103C>T NCBI36
NG_007508.1:g.30553C>T , LRG_177:g.30553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7127C>T ENSP00000493088.1:n.2382-7127C>T
ENST00000646677.2:c.*468C>T ENSP00000496533.1:n.*468C>T
ENST00000697425.1:c.530C>T
ENST00000697426.1:c.418C>T
ENST00000697427.1:c.334C>T
ENST00000697428.1:n.2181C>T
ENST00000641284.1:c.2382-7127C>T ENSP00000493088.1:n.2382-7127C>T
ENST00000646677.1:c.*468C>T ENSP00000496533.1:n.*468C>T
ENST00000647318.2:c.2703C>T MANE Select ENSP00000495993.1:p.Ser901=
ENST00000300589.6:c.2784C>T ENSP00000300589.2:p.Ser928=
ENST00000524712.5:c.278C>T
ENST00000527052.5:c.250C>T
ENST00000529633.5:c.362C>T
ENST00000534057.1:c.418C>T
ENST00000534067.5:c.514C>T
NM_001293557.1:c.2703C>T NP_001280486.1:p.Ser901=
NM_022162.2:c.2784C>T NP_071445.1:p.Ser928=
XM_005256084.2:c.2703C>T XP_005256141.1:p.Ser901=
XM_006721242.2:c.2619C>T XP_006721305.1:p.Ser873=
XM_011523257.1:c.2280C>T XP_011521559.1:p.Ser760=
XM_011523258.1:c.2280C>T XP_011521560.1:p.Ser760=
XM_011523259.1:c.2118C>T XP_011521561.1:p.Ser706=
XR_429725.2:n.2625C>T
XR_429726.2:n.2541C>T
XR_933387.1:n.2821C>T
XM_005256084.4:c.2703C>T XP_005256141.1:p.Ser901=
XM_006721242.4:c.2619C>T XP_006721305.1:p.Ser873=
XM_011523259.2:c.2118C>T XP_011521561.1:p.Ser706=
XM_017023535.1:c.2211C>T XP_016879024.1:p.Ser737=
XM_017023536.1:c.2118C>T XP_016879025.1:p.Ser706=
XM_017023537.1:c.2118C>T XP_016879026.1:p.Ser706=
XM_017023538.1:c.2118C>T XP_016879027.1:p.Ser706=
XR_429725.3:n.2578C>T
XR_429726.3:n.2494C>T
XR_933387.2:n.2774C>T
NM_001293557.2:c.2703C>T NP_001280486.1:p.Ser901=
NM_001370466.1:c.2703C>T MANE Select NP_001357395.1:p.Ser901=
NM_022162.3:c.2784C>T NP_071445.1:p.Ser928=
NR_163434.1:n.2915C>T