Canonical Allele Identifier: CA495778127

Gene: NOD2

Linked Data

• ClinVar Variation Id: 2006409
• ClinVar RCV Id: RCV002811735
• dbSNP Id: rs764929082
• gnomAD v2: 16-50733700-C-G
• gnomAD v4: 16-50699789-C-G
• MyVariant Identifiers: chr16:g.50733700C>G (hg19) ; chr16:g.50699789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699789C>G , CM000678.2:g.50699789C>G	GRCh38
NC_000016.9:g.50733700C>G , CM000678.1:g.50733700C>G	GRCh37
NC_000016.8:g.49291201C>G	NCBI36
NG_007508.1:g.7651C>G , LRG_177:g.7651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.294C>G	ENSP00000493088.1:p.Pro98=
ENST00000646677.2:c.294C>G	ENSP00000496533.1:p.Pro98=
ENST00000641284.1:c.294C>G	ENSP00000493088.1:p.Pro98=
ENST00000646677.1:c.294C>G	ENSP00000496533.1:p.Pro98=
ENST00000647318.2:c.294C>G MANE Select	ENSP00000495993.1:p.Pro98=
ENST00000300589.6:c.375C>G	ENSP00000300589.2:p.Pro125=
ENST00000526417.6:n.362C>G
ENST00000527070.5:c.*990C>G	ENSP00000435149.1:n.*990C>G
ENST00000531674.1:c.294C>G	ENSP00000431681.1:p.Pro98=
ENST00000532206.1:n.479C>G
NM_001293557.1:c.294C>G	NP_001280486.1:p.Pro98=
NM_022162.2:c.375C>G	NP_071445.1:p.Pro125=
XM_005256084.2:c.294C>G	XP_005256141.1:p.Pro98=
XM_006721242.2:c.294C>G	XP_006721305.1:p.Pro98=
XM_006721243.2:c.294C>G	XP_006721306.1:p.Pro98=
XM_011523258.1:c.-38+6127C>G	XP_011521560.1:n.-38+6127C>G
XM_011523259.1:c.-186C>G	XP_011521561.1:n.-186C>G
XM_011523260.1:c.294C>G	XP_011521562.1:p.Pro98=
XM_011523261.1:c.294C>G	XP_011521563.1:p.Pro98=
XR_429725.2:n.384C>G
XR_429726.2:n.384C>G
XR_933387.1:n.384C>G
XM_005256084.4:c.294C>G	XP_005256141.1:p.Pro98=
XM_006721242.4:c.294C>G	XP_006721305.1:p.Pro98=
XM_006721243.4:c.294C>G	XP_006721306.1:p.Pro98=
XM_011523259.2:c.-186C>G	XP_011521561.1:n.-186C>G
XM_011523260.3:c.294C>G	XP_011521562.1:p.Pro98=
XM_011523261.2:c.294C>G	XP_011521563.1:p.Pro98=
XM_017023536.1:c.-127+6127C>G	XP_016879025.1:n.-127+6127C>G
XM_017023537.1:c.-21+6127C>G	XP_016879026.1:n.-21+6127C>G
XR_429725.3:n.337C>G
XR_429726.3:n.337C>G
XR_933387.2:n.337C>G
NM_001293557.2:c.294C>G	NP_001280486.1:p.Pro98=
NM_001370466.1:c.294C>G MANE Select	NP_001357395.1:p.Pro98=
NM_022162.3:c.375C>G	NP_071445.1:p.Pro125=
NR_163434.1:n.359C>G