Canonical Allele Identifier: CA2633164363

Gene: NOD2

Linked Data

• gnomAD v4: 16-50722602-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722602G>A , CM000678.2:g.50722602G>A	GRCh38
NC_000016.9:g.50756513G>A , CM000678.1:g.50756513G>A	GRCh37
NC_000016.8:g.49314014G>A	NCBI36
NG_007508.1:g.30464G>A , LRG_177:g.30464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7216G>A	ENSP00000493088.1:n.2382-7216G>A
ENST00000646677.2:c.*399-20G>A	ENSP00000496533.1:n.*399-20G>A
ENST00000697425.1:c.461-20G>A
ENST00000697426.1:c.349-20G>A
ENST00000697427.1:c.265-20G>A
ENST00000697428.1:n.2112-20G>A
ENST00000641284.1:c.2382-7216G>A	ENSP00000493088.1:n.2382-7216G>A
ENST00000646677.1:c.*399-20G>A	ENSP00000496533.1:n.*399-20G>A
ENST00000647318.2:c.2634-20G>A MANE Select	ENSP00000495993.1:n.2634-20G>A
ENST00000300589.6:c.2715-20G>A	ENSP00000300589.2:n.2715-20G>A
ENST00000524712.5:c.209-20G>A
ENST00000527052.5:c.181-20G>A
ENST00000529633.5:c.293-20G>A
ENST00000534057.1:c.349-20G>A
ENST00000534067.5:c.445-20G>A
NM_001293557.1:c.2634-20G>A	NP_001280486.1:n.2634-20G>A
NM_022162.2:c.2715-20G>A	NP_071445.1:n.2715-20G>A
XM_005256084.2:c.2634-20G>A	XP_005256141.1:n.2634-20G>A
XM_006721242.2:c.2550-20G>A	XP_006721305.1:n.2550-20G>A
XM_011523257.1:c.2211-20G>A	XP_011521559.1:n.2211-20G>A
XM_011523258.1:c.2211-20G>A	XP_011521560.1:n.2211-20G>A
XM_011523259.1:c.2049-20G>A	XP_011521561.1:n.2049-20G>A
XR_429725.2:n.2556-20G>A
XR_429726.2:n.2472-20G>A
XR_933387.1:n.2752-20G>A
XM_005256084.4:c.2634-20G>A	XP_005256141.1:n.2634-20G>A
XM_006721242.4:c.2550-20G>A	XP_006721305.1:n.2550-20G>A
XM_011523259.2:c.2049-20G>A	XP_011521561.1:n.2049-20G>A
XM_017023535.1:c.2142-20G>A	XP_016879024.1:n.2142-20G>A
XM_017023536.1:c.2049-20G>A	XP_016879025.1:n.2049-20G>A
XM_017023537.1:c.2049-20G>A	XP_016879026.1:n.2049-20G>A
XM_017023538.1:c.2049-20G>A	XP_016879027.1:n.2049-20G>A
XR_429725.3:n.2509-20G>A
XR_429726.3:n.2425-20G>A
XR_933387.2:n.2705-20G>A
NM_001293557.2:c.2634-20G>A	NP_001280486.1:n.2634-20G>A
NM_001370466.1:c.2634-20G>A MANE Select	NP_001357395.1:n.2634-20G>A
NM_022162.3:c.2715-20G>A	NP_071445.1:n.2715-20G>A
NR_163434.1:n.2846-20G>A