Canonical Allele Identifier: CA495454268
Gene: NOD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.50744551A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710640A>G , CM000678.2:g.50710640A>G GRCh38
NC_000016.9:g.50744551A>G , CM000678.1:g.50744551A>G GRCh37
NC_000016.8:g.49302052A>G NCBI36
NG_007508.1:g.18502A>G , LRG_177:g.18502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.648A>G ENSP00000493088.1:p.Ala216=
ENST00000646677.2:c.648A>G ENSP00000496533.1:p.Ala216=
ENST00000641284.1:c.648A>G ENSP00000493088.1:p.Ala216=
ENST00000646677.1:c.648A>G ENSP00000496533.1:p.Ala216=
ENST00000647318.2:c.648A>G MANE Select ENSP00000495993.1:p.Ala216=
ENST00000300589.6:c.729A>G ENSP00000300589.2:p.Ala243=
ENST00000526417.6:n.789A>G
ENST00000527070.5:c.*1344A>G ENSP00000435149.1:n.*1344A>G
ENST00000532206.1:n.727A>G
NM_001293557.1:c.648A>G NP_001280486.1:p.Ala216=
NM_022162.2:c.729A>G NP_071445.1:p.Ala243=
XM_005256084.2:c.648A>G XP_005256141.1:p.Ala216=
XM_006721242.2:c.648A>G XP_006721305.1:p.Ala216=
XM_006721243.2:c.648A>G XP_006721306.1:p.Ala216=
XM_011523257.1:c.225A>G XP_011521559.1:p.Ala75=
XM_011523258.1:c.225A>G XP_011521560.1:p.Ala75=
XM_011523259.1:c.63A>G XP_011521561.1:p.Ala21=
XM_011523260.1:c.648A>G XP_011521562.1:p.Ala216=
XM_011523261.1:c.648A>G XP_011521563.1:p.Ala216=
XR_429725.2:n.738A>G
XR_429726.2:n.738A>G
XR_933387.1:n.738A>G
XM_005256084.4:c.648A>G XP_005256141.1:p.Ala216=
XM_006721242.4:c.648A>G XP_006721305.1:p.Ala216=
XM_006721243.4:c.648A>G XP_006721306.1:p.Ala216=
XM_011523259.2:c.63A>G XP_011521561.1:p.Ala21=
XM_011523260.3:c.648A>G XP_011521562.1:p.Ala216=
XM_011523261.2:c.648A>G XP_011521563.1:p.Ala216=
XM_017023535.1:c.156A>G XP_016879024.1:p.Ala52=
XM_017023536.1:c.63A>G XP_016879025.1:p.Ala21=
XM_017023537.1:c.63A>G XP_016879026.1:p.Ala21=
XM_017023538.1:c.63A>G XP_016879027.1:p.Ala21=
XR_429725.3:n.691A>G
XR_429726.3:n.691A>G
XR_933387.2:n.691A>G
NM_001293557.2:c.648A>G NP_001280486.1:p.Ala216=
NM_001370466.1:c.648A>G MANE Select NP_001357395.1:p.Ala216=
NM_022162.3:c.729A>G NP_071445.1:p.Ala243=
NR_163434.1:n.713A>G