Canonical Allele Identifier: CA495779053
Gene: NOD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.50746081G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50712170G>A , CM000678.2:g.50712170G>A GRCh38
NC_000016.9:g.50746081G>A , CM000678.1:g.50746081G>A GRCh37
NC_000016.8:g.49303582G>A NCBI36
NG_007508.1:g.20032G>A , LRG_177:g.20032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2178G>A ENSP00000493088.1:p.Arg726=
ENST00000646677.2:c.2178G>A ENSP00000496533.1:p.Arg726=
ENST00000641284.1:c.2178G>A ENSP00000493088.1:p.Arg726=
ENST00000646677.1:c.2178G>A ENSP00000496533.1:p.Arg726=
ENST00000647318.2:c.2178G>A MANE Select ENSP00000495993.1:p.Arg726=
ENST00000300589.6:c.2259G>A ENSP00000300589.2:p.Arg753=
NM_001293557.1:c.2178G>A NP_001280486.1:p.Arg726=
NM_022162.2:c.2259G>A NP_071445.1:p.Arg753=
XM_005256084.2:c.2178G>A XP_005256141.1:p.Arg726=
XM_006721242.2:c.2178G>A XP_006721305.1:p.Arg726=
XM_006721243.2:c.2178G>A XP_006721306.1:p.Arg726=
XM_011523257.1:c.1755G>A XP_011521559.1:p.Arg585=
XM_011523258.1:c.1755G>A XP_011521560.1:p.Arg585=
XM_011523259.1:c.1593G>A XP_011521561.1:p.Arg531=
XM_011523260.1:c.2178G>A XP_011521562.1:p.Arg726=
XM_011523261.1:c.2178G>A XP_011521563.1:p.Arg726=
XR_429725.2:n.2268G>A
XR_429726.2:n.2268G>A
XR_933387.1:n.2268G>A
XM_005256084.4:c.2178G>A XP_005256141.1:p.Arg726=
XM_006721242.4:c.2178G>A XP_006721305.1:p.Arg726=
XM_006721243.4:c.2178G>A XP_006721306.1:p.Arg726=
XM_011523259.2:c.1593G>A XP_011521561.1:p.Arg531=
XM_011523260.3:c.2178G>A XP_011521562.1:p.Arg726=
XM_011523261.2:c.2178G>A XP_011521563.1:p.Arg726=
XM_017023535.1:c.1686G>A XP_016879024.1:p.Arg562=
XM_017023536.1:c.1593G>A XP_016879025.1:p.Arg531=
XM_017023537.1:c.1593G>A XP_016879026.1:p.Arg531=
XM_017023538.1:c.1593G>A XP_016879027.1:p.Arg531=
XR_429725.3:n.2221G>A
XR_429726.3:n.2221G>A
XR_933387.2:n.2221G>A
NM_001293557.2:c.2178G>A NP_001280486.1:p.Arg726=
NM_001370466.1:c.2178G>A MANE Select NP_001357395.1:p.Arg726=
NM_022162.3:c.2259G>A NP_071445.1:p.Arg753=
NR_163434.1:n.2243G>A