Canonical Allele Identifier: CA395875318

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756611G>A (hg19) ; chr16:g.50722700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722700G>A , CM000678.2:g.50722700G>A	GRCh38
NC_000016.9:g.50756611G>A , CM000678.1:g.50756611G>A	GRCh37
NC_000016.8:g.49314112G>A	NCBI36
NG_007508.1:g.30562G>A , LRG_177:g.30562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7118G>A	ENSP00000493088.1:n.2382-7118G>A
ENST00000646677.2:c.*477G>A	ENSP00000496533.1:n.*477G>A
ENST00000697425.1:c.539G>A
ENST00000697426.1:c.427G>A
ENST00000697427.1:c.343G>A
ENST00000697428.1:n.2190G>A
ENST00000641284.1:c.2382-7118G>A	ENSP00000493088.1:n.2382-7118G>A
ENST00000646677.1:c.*477G>A	ENSP00000496533.1:n.*477G>A
ENST00000647318.2:c.2712G>A MANE Select	ENSP00000495993.1:p.Trp904Ter
ENST00000300589.6:c.2793G>A	ENSP00000300589.2:p.Trp931Ter
ENST00000524712.5:c.287G>A
ENST00000527052.5:c.259G>A
ENST00000529633.5:c.371G>A
ENST00000534057.1:c.427G>A
ENST00000534067.5:c.523G>A
NM_001293557.1:c.2712G>A	NP_001280486.1:p.Trp904Ter
NM_022162.2:c.2793G>A	NP_071445.1:p.Trp931Ter
XM_005256084.2:c.2712G>A	XP_005256141.1:p.Trp904Ter
XM_006721242.2:c.2628G>A	XP_006721305.1:p.Trp876Ter
XM_011523257.1:c.2289G>A	XP_011521559.1:p.Trp763Ter
XM_011523258.1:c.2289G>A	XP_011521560.1:p.Trp763Ter
XM_011523259.1:c.2127G>A	XP_011521561.1:p.Trp709Ter
XR_429725.2:n.2634G>A
XR_429726.2:n.2550G>A
XR_933387.1:n.2830G>A
XM_005256084.4:c.2712G>A	XP_005256141.1:p.Trp904Ter
XM_006721242.4:c.2628G>A	XP_006721305.1:p.Trp876Ter
XM_011523259.2:c.2127G>A	XP_011521561.1:p.Trp709Ter
XM_017023535.1:c.2220G>A	XP_016879024.1:p.Trp740Ter
XM_017023536.1:c.2127G>A	XP_016879025.1:p.Trp709Ter
XM_017023537.1:c.2127G>A	XP_016879026.1:p.Trp709Ter
XM_017023538.1:c.2127G>A	XP_016879027.1:p.Trp709Ter
XR_429725.3:n.2587G>A
XR_429726.3:n.2503G>A
XR_933387.2:n.2783G>A
NM_001293557.2:c.2712G>A	NP_001280486.1:p.Trp904Ter
NM_001370466.1:c.2712G>A MANE Select	NP_001357395.1:p.Trp904Ter
NM_022162.3:c.2793G>A	NP_071445.1:p.Trp931Ter
NR_163434.1:n.2924G>A