Canonical Allele Identifier: CA395875272
Gene: NOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722690G>T , CM000678.2:g.50722690G>T GRCh38
NC_000016.9:g.50756601G>T , CM000678.1:g.50756601G>T GRCh37
NC_000016.8:g.49314102G>T NCBI36
NG_007508.1:g.30552G>T , LRG_177:g.30552G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7128G>T ENSP00000493088.1:n.2382-7128G>T
ENST00000646677.2:c.*467G>T ENSP00000496533.1:n.*467G>T
ENST00000697425.1:c.529G>T
ENST00000697426.1:c.417G>T
ENST00000697427.1:c.333G>T
ENST00000697428.1:n.2180G>T
ENST00000641284.1:c.2382-7128G>T ENSP00000493088.1:n.2382-7128G>T
ENST00000646677.1:c.*467G>T ENSP00000496533.1:n.*467G>T
ENST00000647318.2:c.2702G>T MANE Select ENSP00000495993.1:p.Ser901Ile
ENST00000300589.6:c.2783G>T ENSP00000300589.2:p.Ser928Ile
ENST00000524712.5:c.277G>T
ENST00000527052.5:c.249G>T
ENST00000529633.5:c.361G>T
ENST00000534057.1:c.417G>T
ENST00000534067.5:c.513G>T
NM_001293557.1:c.2702G>T NP_001280486.1:p.Ser901Ile
NM_022162.2:c.2783G>T NP_071445.1:p.Ser928Ile
XM_005256084.2:c.2702G>T XP_005256141.1:p.Ser901Ile
XM_006721242.2:c.2618G>T XP_006721305.1:p.Ser873Ile
XM_011523257.1:c.2279G>T XP_011521559.1:p.Ser760Ile
XM_011523258.1:c.2279G>T XP_011521560.1:p.Ser760Ile
XM_011523259.1:c.2117G>T XP_011521561.1:p.Ser706Ile
XR_429725.2:n.2624G>T
XR_429726.2:n.2540G>T
XR_933387.1:n.2820G>T
XM_005256084.4:c.2702G>T XP_005256141.1:p.Ser901Ile
XM_006721242.4:c.2618G>T XP_006721305.1:p.Ser873Ile
XM_011523259.2:c.2117G>T XP_011521561.1:p.Ser706Ile
XM_017023535.1:c.2210G>T XP_016879024.1:p.Ser737Ile
XM_017023536.1:c.2117G>T XP_016879025.1:p.Ser706Ile
XM_017023537.1:c.2117G>T XP_016879026.1:p.Ser706Ile
XM_017023538.1:c.2117G>T XP_016879027.1:p.Ser706Ile
XR_429725.3:n.2577G>T
XR_429726.3:n.2493G>T
XR_933387.2:n.2773G>T
NM_001293557.2:c.2702G>T NP_001280486.1:p.Ser901Ile
NM_001370466.1:c.2702G>T MANE Select NP_001357395.1:p.Ser901Ile
NM_022162.3:c.2783G>T NP_071445.1:p.Ser928Ile
NR_163434.1:n.2914G>T