Canonical Allele Identifier: CA495453886
Gene: NOD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.50744518T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710607T>G , CM000678.2:g.50710607T>G GRCh38
NC_000016.9:g.50744518T>G , CM000678.1:g.50744518T>G GRCh37
NC_000016.8:g.49302019T>G NCBI36
NG_007508.1:g.18469T>G , LRG_177:g.18469T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.615T>G ENSP00000493088.1:p.Ala205=
ENST00000646677.2:c.615T>G ENSP00000496533.1:p.Ala205=
ENST00000641284.1:c.615T>G ENSP00000493088.1:p.Ala205=
ENST00000646677.1:c.615T>G ENSP00000496533.1:p.Ala205=
ENST00000647318.2:c.615T>G MANE Select ENSP00000495993.1:p.Ala205=
ENST00000300589.6:c.696T>G ENSP00000300589.2:p.Ala232=
ENST00000526417.6:n.756T>G
ENST00000527070.5:c.*1311T>G ENSP00000435149.1:n.*1311T>G
ENST00000532206.1:n.694T>G
NM_001293557.1:c.615T>G NP_001280486.1:p.Ala205=
NM_022162.2:c.696T>G NP_071445.1:p.Ala232=
XM_005256084.2:c.615T>G XP_005256141.1:p.Ala205=
XM_006721242.2:c.615T>G XP_006721305.1:p.Ala205=
XM_006721243.2:c.615T>G XP_006721306.1:p.Ala205=
XM_011523257.1:c.192T>G XP_011521559.1:p.Ala64=
XM_011523258.1:c.192T>G XP_011521560.1:p.Ala64=
XM_011523259.1:c.30T>G XP_011521561.1:p.Ala10=
XM_011523260.1:c.615T>G XP_011521562.1:p.Ala205=
XM_011523261.1:c.615T>G XP_011521563.1:p.Ala205=
XR_429725.2:n.705T>G
XR_429726.2:n.705T>G
XR_933387.1:n.705T>G
XM_005256084.4:c.615T>G XP_005256141.1:p.Ala205=
XM_006721242.4:c.615T>G XP_006721305.1:p.Ala205=
XM_006721243.4:c.615T>G XP_006721306.1:p.Ala205=
XM_011523259.2:c.30T>G XP_011521561.1:p.Ala10=
XM_011523260.3:c.615T>G XP_011521562.1:p.Ala205=
XM_011523261.2:c.615T>G XP_011521563.1:p.Ala205=
XM_017023535.1:c.123T>G XP_016879024.1:p.Ala41=
XM_017023536.1:c.30T>G XP_016879025.1:p.Ala10=
XM_017023537.1:c.30T>G XP_016879026.1:p.Ala10=
XM_017023538.1:c.30T>G XP_016879027.1:p.Ala10=
XR_429725.3:n.658T>G
XR_429726.3:n.658T>G
XR_933387.2:n.658T>G
NM_001293557.2:c.615T>G NP_001280486.1:p.Ala205=
NM_001370466.1:c.615T>G MANE Select NP_001357395.1:p.Ala205=
NM_022162.3:c.696T>G NP_071445.1:p.Ala232=
NR_163434.1:n.680T>G