Canonical Allele Identifier: CA977235486

Gene: NOD2

Linked Data

• gnomAD v3: 16-50723008-C-A
• gnomAD v4: 16-50723008-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50723008C>A , CM000678.2:g.50723008C>A	GRCh38
NC_000016.9:g.50756919C>A , CM000678.1:g.50756919C>A	GRCh37
NC_000016.8:g.49314420C>A	NCBI36
NG_007508.1:g.30870C>A , LRG_177:g.30870C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2382-6810C>A	ENSP00000493088.1:n.2382-6810C>A
ENST00000646677.2:c.*483-293C>A	ENSP00000496533.1:n.*483-293C>A
ENST00000697425.1:c.545-293C>A
ENST00000697426.1:c.433-293C>A
ENST00000697427.1:c.349-293C>A
ENST00000697428.1:n.2196-293C>A
ENST00000641284.1:c.2382-6810C>A	ENSP00000493088.1:n.2382-6810C>A
ENST00000646677.1:c.*483-293C>A	ENSP00000496533.1:n.*483-293C>A
ENST00000647318.2:c.2718-293C>A MANE Select	ENSP00000495993.1:n.2718-293C>A
ENST00000300589.6:c.2799-293C>A	ENSP00000300589.2:n.2799-293C>A
ENST00000524712.5:c.293-293C>A
ENST00000527052.5:c.265-293C>A
ENST00000529633.5:c.377-293C>A
ENST00000534057.1:c.433-293C>A
ENST00000534067.5:c.529-293C>A
NM_001293557.1:c.2718-293C>A	NP_001280486.1:n.2718-293C>A
NM_022162.2:c.2799-293C>A	NP_071445.1:n.2799-293C>A
XM_005256084.2:c.2718-293C>A	XP_005256141.1:n.2718-293C>A
XM_006721242.2:c.2634-293C>A	XP_006721305.1:n.2634-293C>A
XM_011523257.1:c.2295-293C>A	XP_011521559.1:n.2295-293C>A
XM_011523258.1:c.2295-293C>A	XP_011521560.1:n.2295-293C>A
XM_011523259.1:c.2133-293C>A	XP_011521561.1:n.2133-293C>A
XR_429725.2:n.2640-293C>A
XR_429726.2:n.2556-293C>A
XR_933387.1:n.2836-293C>A
XM_005256084.4:c.2718-293C>A	XP_005256141.1:n.2718-293C>A
XM_006721242.4:c.2634-293C>A	XP_006721305.1:n.2634-293C>A
XM_011523259.2:c.2133-293C>A	XP_011521561.1:n.2133-293C>A
XM_017023535.1:c.2226-293C>A	XP_016879024.1:n.2226-293C>A
XM_017023536.1:c.2133-293C>A	XP_016879025.1:n.2133-293C>A
XM_017023537.1:c.2133-293C>A	XP_016879026.1:n.2133-293C>A
XM_017023538.1:c.2133-293C>A	XP_016879027.1:n.2133-293C>A
XR_429725.3:n.2593-293C>A
XR_429726.3:n.2509-293C>A
XR_933387.2:n.2789-293C>A
NM_001293557.2:c.2718-293C>A	NP_001280486.1:n.2718-293C>A
NM_001370466.1:c.2718-293C>A MANE Select	NP_001357395.1:n.2718-293C>A
NM_022162.3:c.2799-293C>A	NP_071445.1:n.2799-293C>A
NR_163434.1:n.2930-293C>A