Canonical Allele Identifier: CA977235519

Gene: NOD2

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50723074_50723076del , CM000678.2:g.50723074_50723076del	GRCh38
NC_000016.9:g.50756985_50756987del , CM000678.1:g.50756985_50756987del	GRCh37
NC_000016.8:g.49314486_49314488del	NCBI36
NG_007508.1:g.30936_30938del , LRG_177:g.30936_30938del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2382-6744_2382-6742del	ENSP00000493088.1:n.2382-6744_2382-6742de...
ENST00000646677.2:c.*483-227_*483-225del	ENSP00000496533.1:n.*483-227_*483-225del
ENST00000697425.1:c.545-227_545-225del
ENST00000697426.1:c.433-227_433-225del
ENST00000697427.1:c.349-227_349-225del
ENST00000697428.1:n.2196-227_2196-225del
ENST00000641284.1:c.2382-6744_2382-6742del	ENSP00000493088.1:n.2382-6744_2382-6742de...
ENST00000646677.1:c.*483-227_*483-225del	ENSP00000496533.1:n.*483-227_*483-225del
ENST00000647318.2:c.2718-227_2718-225del MANE Select	ENSP00000495993.1:n.2718-227_2718-225del
ENST00000300589.6:c.2799-227_2799-225del	ENSP00000300589.2:n.2799-227_2799-225del
ENST00000524712.5:c.293-227_293-225del
ENST00000527052.5:c.265-227_265-225del
ENST00000529633.5:c.377-227_377-225del
ENST00000534057.1:c.433-227_433-225del
ENST00000534067.5:c.529-227_529-225del
NM_001293557.1:c.2718-227_2718-225del	NP_001280486.1:n.2718-227_2718-225del
NM_022162.2:c.2799-227_2799-225del	NP_071445.1:n.2799-227_2799-225del
XM_005256084.2:c.2718-227_2718-225del	XP_005256141.1:n.2718-227_2718-225del
XM_006721242.2:c.2634-227_2634-225del	XP_006721305.1:n.2634-227_2634-225del
XM_011523257.1:c.2295-227_2295-225del	XP_011521559.1:n.2295-227_2295-225del
XM_011523258.1:c.2295-227_2295-225del	XP_011521560.1:n.2295-227_2295-225del
XM_011523259.1:c.2133-227_2133-225del	XP_011521561.1:n.2133-227_2133-225del
XR_429725.2:n.2640-227_2640-225del
XR_429726.2:n.2556-227_2556-225del
XR_933387.1:n.2836-227_2836-225del
XM_005256084.4:c.2718-227_2718-225del	XP_005256141.1:n.2718-227_2718-225del
XM_006721242.4:c.2634-227_2634-225del	XP_006721305.1:n.2634-227_2634-225del
XM_011523259.2:c.2133-227_2133-225del	XP_011521561.1:n.2133-227_2133-225del
XM_017023535.1:c.2226-227_2226-225del	XP_016879024.1:n.2226-227_2226-225del
XM_017023536.1:c.2133-227_2133-225del	XP_016879025.1:n.2133-227_2133-225del
XM_017023537.1:c.2133-227_2133-225del	XP_016879026.1:n.2133-227_2133-225del
XM_017023538.1:c.2133-227_2133-225del	XP_016879027.1:n.2133-227_2133-225del
XR_429725.3:n.2593-227_2593-225del
XR_429726.3:n.2509-227_2509-225del
XR_933387.2:n.2789-227_2789-225del
NM_001293557.2:c.2718-227_2718-225del	NP_001280486.1:n.2718-227_2718-225del
NM_001370466.1:c.2718-227_2718-225del MANE Select	NP_001357395.1:n.2718-227_2718-225del
NM_022162.3:c.2799-227_2799-225del	NP_071445.1:n.2799-227_2799-225del
NR_163434.1:n.2930-227_2930-225del