Canonical Allele Identifier: CA395867308

Gene: NOD2

Linked Data

• gnomAD v4: 16-50710576-A-G
• MyVariant Identifiers: chr16:g.50744487A>G (hg19) ; chr16:g.50710576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710576A>G , CM000678.2:g.50710576A>G	GRCh38
NC_000016.9:g.50744487A>G , CM000678.1:g.50744487A>G	GRCh37
NC_000016.8:g.49301988A>G	NCBI36
NG_007508.1:g.18438A>G , LRG_177:g.18438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.584A>G	ENSP00000493088.1:p.Tyr195Cys
ENST00000646677.2:c.584A>G	ENSP00000496533.1:p.Tyr195Cys
ENST00000641284.1:c.584A>G	ENSP00000493088.1:p.Tyr195Cys
ENST00000646677.1:c.584A>G	ENSP00000496533.1:p.Tyr195Cys
ENST00000647318.2:c.584A>G MANE Select	ENSP00000495993.1:p.Tyr195Cys
ENST00000300589.6:c.665A>G	ENSP00000300589.2:p.Tyr222Cys
ENST00000526417.6:n.725A>G
ENST00000527070.5:c.*1280A>G	ENSP00000435149.1:n.*1280A>G
ENST00000532206.1:n.663A>G
NM_001293557.1:c.584A>G	NP_001280486.1:p.Tyr195Cys
NM_022162.2:c.665A>G	NP_071445.1:p.Tyr222Cys
XM_005256084.2:c.584A>G	XP_005256141.1:p.Tyr195Cys
XM_006721242.2:c.584A>G	XP_006721305.1:p.Tyr195Cys
XM_006721243.2:c.584A>G	XP_006721306.1:p.Tyr195Cys
XM_011523257.1:c.161A>G	XP_011521559.1:p.Tyr54Cys
XM_011523258.1:c.161A>G	XP_011521560.1:p.Tyr54Cys
XM_011523259.1:c.-2A>G	XP_011521561.1:n.-2A>G
XM_011523260.1:c.584A>G	XP_011521562.1:p.Tyr195Cys
XM_011523261.1:c.584A>G	XP_011521563.1:p.Tyr195Cys
XR_429725.2:n.674A>G
XR_429726.2:n.674A>G
XR_933387.1:n.674A>G
XM_005256084.4:c.584A>G	XP_005256141.1:p.Tyr195Cys
XM_006721242.4:c.584A>G	XP_006721305.1:p.Tyr195Cys
XM_006721243.4:c.584A>G	XP_006721306.1:p.Tyr195Cys
XM_011523259.2:c.-2A>G	XP_011521561.1:n.-2A>G
XM_011523260.3:c.584A>G	XP_011521562.1:p.Tyr195Cys
XM_011523261.2:c.584A>G	XP_011521563.1:p.Tyr195Cys
XM_017023535.1:c.92A>G	XP_016879024.1:p.Tyr31Cys
XM_017023536.1:c.-2A>G	XP_016879025.1:n.-2A>G
XM_017023537.1:c.-2A>G	XP_016879026.1:n.-2A>G
XM_017023538.1:c.-2A>G	XP_016879027.1:n.-2A>G
XR_429725.3:n.627A>G
XR_429726.3:n.627A>G
XR_933387.2:n.627A>G
NM_001293557.2:c.584A>G	NP_001280486.1:p.Tyr195Cys
NM_001370466.1:c.584A>G MANE Select	NP_001357395.1:p.Tyr195Cys
NM_022162.3:c.665A>G	NP_071445.1:p.Tyr222Cys
NR_163434.1:n.649A>G