Canonical Allele Identifier: CA495453762
Gene: NOD2 HGNC NCBI

Linked Data

dbSNP Id: rs771003092
MyVariant Identifiers: chr16:g.50744509G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710598G>T , CM000678.2:g.50710598G>T GRCh38
NC_000016.9:g.50744509G>T , CM000678.1:g.50744509G>T GRCh37
NC_000016.8:g.49302010G>T NCBI36
NG_007508.1:g.18460G>T , LRG_177:g.18460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.606G>T ENSP00000493088.1:p.Thr202=
ENST00000646677.2:c.606G>T ENSP00000496533.1:p.Thr202=
ENST00000641284.1:c.606G>T ENSP00000493088.1:p.Thr202=
ENST00000646677.1:c.606G>T ENSP00000496533.1:p.Thr202=
ENST00000647318.2:c.606G>T MANE Select ENSP00000495993.1:p.Thr202=
ENST00000300589.6:c.687G>T ENSP00000300589.2:p.Thr229=
ENST00000526417.6:n.747G>T
ENST00000527070.5:c.*1302G>T ENSP00000435149.1:n.*1302G>T
ENST00000532206.1:n.685G>T
NM_001293557.1:c.606G>T NP_001280486.1:p.Thr202=
NM_022162.2:c.687G>T NP_071445.1:p.Thr229=
XM_005256084.2:c.606G>T XP_005256141.1:p.Thr202=
XM_006721242.2:c.606G>T XP_006721305.1:p.Thr202=
XM_006721243.2:c.606G>T XP_006721306.1:p.Thr202=
XM_011523257.1:c.183G>T XP_011521559.1:p.Thr61=
XM_011523258.1:c.183G>T XP_011521560.1:p.Thr61=
XM_011523259.1:c.21G>T XP_011521561.1:p.Thr7=
XM_011523260.1:c.606G>T XP_011521562.1:p.Thr202=
XM_011523261.1:c.606G>T XP_011521563.1:p.Thr202=
XR_429725.2:n.696G>T
XR_429726.2:n.696G>T
XR_933387.1:n.696G>T
XM_005256084.4:c.606G>T XP_005256141.1:p.Thr202=
XM_006721242.4:c.606G>T XP_006721305.1:p.Thr202=
XM_006721243.4:c.606G>T XP_006721306.1:p.Thr202=
XM_011523259.2:c.21G>T XP_011521561.1:p.Thr7=
XM_011523260.3:c.606G>T XP_011521562.1:p.Thr202=
XM_011523261.2:c.606G>T XP_011521563.1:p.Thr202=
XM_017023535.1:c.114G>T XP_016879024.1:p.Thr38=
XM_017023536.1:c.21G>T XP_016879025.1:p.Thr7=
XM_017023537.1:c.21G>T XP_016879026.1:p.Thr7=
XM_017023538.1:c.21G>T XP_016879027.1:p.Thr7=
XR_429725.3:n.649G>T
XR_429726.3:n.649G>T
XR_933387.2:n.649G>T
NM_001293557.2:c.606G>T NP_001280486.1:p.Thr202=
NM_001370466.1:c.606G>T MANE Select NP_001357395.1:p.Thr202=
NM_022162.3:c.687G>T NP_071445.1:p.Thr229=
NR_163434.1:n.671G>T