Canonical Allele Identifier: CA8051423

Gene: NOD2

Linked Data

• ClinVar Variation Id: 864813
• ClinVar RCV Id: RCV002554642
• dbSNP Id: rs191901394
• ExAC: 16:50744742 C / T
• gnomAD v2: 16-50744742-C-T
• gnomAD v3: 16-50710831-C-T
• gnomAD v4: 16-50710831-C-T
• MyVariant Identifiers: chr16:g.50744742C>T (hg19) ; chr16:g.50710831C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710831C>T , CM000678.2:g.50710831C>T	GRCh38
NC_000016.9:g.50744742C>T , CM000678.1:g.50744742C>T	GRCh37
NC_000016.8:g.49302243C>T	NCBI36
NG_007508.1:g.18693C>T , LRG_177:g.18693C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.839C>T	ENSP00000493088.1:p.Thr280Met
ENST00000646677.2:c.839C>T	ENSP00000496533.1:p.Thr280Met
ENST00000641284.1:c.839C>T	ENSP00000493088.1:p.Thr280Met
ENST00000646677.1:c.839C>T	ENSP00000496533.1:p.Thr280Met
ENST00000647318.2:c.839C>T MANE Select	ENSP00000495993.1:p.Thr280Met
ENST00000300589.6:c.920C>T	ENSP00000300589.2:p.Thr307Met
ENST00000526417.6:n.980C>T
NM_001293557.1:c.839C>T	NP_001280486.1:p.Thr280Met
NM_022162.2:c.920C>T	NP_071445.1:p.Thr307Met
XM_005256084.2:c.839C>T	XP_005256141.1:p.Thr280Met
XM_006721242.2:c.839C>T	XP_006721305.1:p.Thr280Met
XM_006721243.2:c.839C>T	XP_006721306.1:p.Thr280Met
XM_011523257.1:c.416C>T	XP_011521559.1:p.Thr139Met
XM_011523258.1:c.416C>T	XP_011521560.1:p.Thr139Met
XM_011523259.1:c.254C>T	XP_011521561.1:p.Thr85Met
XM_011523260.1:c.839C>T	XP_011521562.1:p.Thr280Met
XM_011523261.1:c.839C>T	XP_011521563.1:p.Thr280Met
XR_429725.2:n.929C>T
XR_429726.2:n.929C>T
XR_933387.1:n.929C>T
XM_005256084.4:c.839C>T	XP_005256141.1:p.Thr280Met
XM_006721242.4:c.839C>T	XP_006721305.1:p.Thr280Met
XM_006721243.4:c.839C>T	XP_006721306.1:p.Thr280Met
XM_011523259.2:c.254C>T	XP_011521561.1:p.Thr85Met
XM_011523260.3:c.839C>T	XP_011521562.1:p.Thr280Met
XM_011523261.2:c.839C>T	XP_011521563.1:p.Thr280Met
XM_017023535.1:c.347C>T	XP_016879024.1:p.Thr116Met
XM_017023536.1:c.254C>T	XP_016879025.1:p.Thr85Met
XM_017023537.1:c.254C>T	XP_016879026.1:p.Thr85Met
XM_017023538.1:c.254C>T	XP_016879027.1:p.Thr85Met
XR_429725.3:n.882C>T
XR_429726.3:n.882C>T
XR_933387.2:n.882C>T
NM_001293557.2:c.839C>T	NP_001280486.1:p.Thr280Met
NM_001370466.1:c.839C>T MANE Select	NP_001357395.1:p.Thr280Met
NM_022162.3:c.920C>T	NP_071445.1:p.Thr307Met
NR_163434.1:n.904C>T