Canonical Allele Identifier: CA395875192

Gene: NOD2

Linked Data

• gnomAD v4: 16-50722672-C-G
• MyVariant Identifiers: chr16:g.50756583C>G (hg19) ; chr16:g.50722672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722672C>G , CM000678.2:g.50722672C>G	GRCh38
NC_000016.9:g.50756583C>G , CM000678.1:g.50756583C>G	GRCh37
NC_000016.8:g.49314084C>G	NCBI36
NG_007508.1:g.30534C>G , LRG_177:g.30534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7146C>G	ENSP00000493088.1:n.2382-7146C>G
ENST00000646677.2:c.*449C>G	ENSP00000496533.1:n.*449C>G
ENST00000697425.1:c.511C>G
ENST00000697426.1:c.399C>G
ENST00000697427.1:c.315C>G
ENST00000697428.1:n.2162C>G
ENST00000641284.1:c.2382-7146C>G	ENSP00000493088.1:n.2382-7146C>G
ENST00000646677.1:c.*449C>G	ENSP00000496533.1:n.*449C>G
ENST00000647318.2:c.2684C>G MANE Select	ENSP00000495993.1:p.Ala895Gly
ENST00000300589.6:c.2765C>G	ENSP00000300589.2:p.Ala922Gly
ENST00000524712.5:c.259C>G
ENST00000527052.5:c.231C>G
ENST00000529633.5:c.343C>G
ENST00000534057.1:c.399C>G
ENST00000534067.5:c.495C>G
NM_001293557.1:c.2684C>G	NP_001280486.1:p.Ala895Gly
NM_022162.2:c.2765C>G	NP_071445.1:p.Ala922Gly
XM_005256084.2:c.2684C>G	XP_005256141.1:p.Ala895Gly
XM_006721242.2:c.2600C>G	XP_006721305.1:p.Ala867Gly
XM_011523257.1:c.2261C>G	XP_011521559.1:p.Ala754Gly
XM_011523258.1:c.2261C>G	XP_011521560.1:p.Ala754Gly
XM_011523259.1:c.2099C>G	XP_011521561.1:p.Ala700Gly
XR_429725.2:n.2606C>G
XR_429726.2:n.2522C>G
XR_933387.1:n.2802C>G
XM_005256084.4:c.2684C>G	XP_005256141.1:p.Ala895Gly
XM_006721242.4:c.2600C>G	XP_006721305.1:p.Ala867Gly
XM_011523259.2:c.2099C>G	XP_011521561.1:p.Ala700Gly
XM_017023535.1:c.2192C>G	XP_016879024.1:p.Ala731Gly
XM_017023536.1:c.2099C>G	XP_016879025.1:p.Ala700Gly
XM_017023537.1:c.2099C>G	XP_016879026.1:p.Ala700Gly
XM_017023538.1:c.2099C>G	XP_016879027.1:p.Ala700Gly
XR_429725.3:n.2559C>G
XR_429726.3:n.2475C>G
XR_933387.2:n.2755C>G
NM_001293557.2:c.2684C>G	NP_001280486.1:p.Ala895Gly
NM_001370466.1:c.2684C>G MANE Select	NP_001357395.1:p.Ala895Gly
NM_022162.3:c.2765C>G	NP_071445.1:p.Ala922Gly
NR_163434.1:n.2896C>G