Canonical Allele Identifier: CA977235518

Gene: NOD2

Linked Data

• gnomAD v3: 16-50723073-GTC-G
• gnomAD v4: 16-50723073-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50723075_50723076del , CM000678.2:g.50723075_50723076del	GRCh38
NC_000016.9:g.50756986_50756987del , CM000678.1:g.50756986_50756987del	GRCh37
NC_000016.8:g.49314487_49314488del	NCBI36
NG_007508.1:g.30937_30938del , LRG_177:g.30937_30938del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2382-6743_2382-6742del	ENSP00000493088.1:n.2382-6743_2382-6742de...
ENST00000646677.2:c.*483-226_*483-225del	ENSP00000496533.1:n.*483-226_*483-225del
ENST00000697425.1:c.545-226_545-225del
ENST00000697426.1:c.433-226_433-225del
ENST00000697427.1:c.349-226_349-225del
ENST00000697428.1:n.2196-226_2196-225del
ENST00000641284.1:c.2382-6743_2382-6742del	ENSP00000493088.1:n.2382-6743_2382-6742de...
ENST00000646677.1:c.*483-226_*483-225del	ENSP00000496533.1:n.*483-226_*483-225del
ENST00000647318.2:c.2718-226_2718-225del MANE Select	ENSP00000495993.1:n.2718-226_2718-225del
ENST00000300589.6:c.2799-226_2799-225del	ENSP00000300589.2:n.2799-226_2799-225del
ENST00000524712.5:c.293-226_293-225del
ENST00000527052.5:c.265-226_265-225del
ENST00000529633.5:c.377-226_377-225del
ENST00000534057.1:c.433-226_433-225del
ENST00000534067.5:c.529-226_529-225del
NM_001293557.1:c.2718-226_2718-225del	NP_001280486.1:n.2718-226_2718-225del
NM_022162.2:c.2799-226_2799-225del	NP_071445.1:n.2799-226_2799-225del
XM_005256084.2:c.2718-226_2718-225del	XP_005256141.1:n.2718-226_2718-225del
XM_006721242.2:c.2634-226_2634-225del	XP_006721305.1:n.2634-226_2634-225del
XM_011523257.1:c.2295-226_2295-225del	XP_011521559.1:n.2295-226_2295-225del
XM_011523258.1:c.2295-226_2295-225del	XP_011521560.1:n.2295-226_2295-225del
XM_011523259.1:c.2133-226_2133-225del	XP_011521561.1:n.2133-226_2133-225del
XR_429725.2:n.2640-226_2640-225del
XR_429726.2:n.2556-226_2556-225del
XR_933387.1:n.2836-226_2836-225del
XM_005256084.4:c.2718-226_2718-225del	XP_005256141.1:n.2718-226_2718-225del
XM_006721242.4:c.2634-226_2634-225del	XP_006721305.1:n.2634-226_2634-225del
XM_011523259.2:c.2133-226_2133-225del	XP_011521561.1:n.2133-226_2133-225del
XM_017023535.1:c.2226-226_2226-225del	XP_016879024.1:n.2226-226_2226-225del
XM_017023536.1:c.2133-226_2133-225del	XP_016879025.1:n.2133-226_2133-225del
XM_017023537.1:c.2133-226_2133-225del	XP_016879026.1:n.2133-226_2133-225del
XM_017023538.1:c.2133-226_2133-225del	XP_016879027.1:n.2133-226_2133-225del
XR_429725.3:n.2593-226_2593-225del
XR_429726.3:n.2509-226_2509-225del
XR_933387.2:n.2789-226_2789-225del
NM_001293557.2:c.2718-226_2718-225del	NP_001280486.1:n.2718-226_2718-225del
NM_001370466.1:c.2718-226_2718-225del MANE Select	NP_001357395.1:n.2718-226_2718-225del
NM_022162.3:c.2799-226_2799-225del	NP_071445.1:n.2799-226_2799-225del
NR_163434.1:n.2930-226_2930-225del