Canonical Allele Identifier: CA2575991186

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699896del , CM000678.2:g.50699896del	GRCh38
NC_000016.9:g.50733807del , CM000678.1:g.50733807del	GRCh37
NC_000016.8:g.49291308del	NCBI36
NG_007508.1:g.7758del , LRG_177:g.7758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.401del	ENSP00000493088.1:p.Phe134SerfsTer30
ENST00000646677.2:c.401del	ENSP00000496533.1:p.Phe134SerfsTer30
ENST00000641284.1:c.401del	ENSP00000493088.1:p.Phe134SerfsTer30
ENST00000646677.1:c.401del	ENSP00000496533.1:p.Phe134SerfsTer30
ENST00000647318.2:c.401del MANE Select	ENSP00000495993.1:p.Phe134SerfsTer30
ENST00000300589.6:c.482del	ENSP00000300589.2:p.Phe161SerfsTer30
ENST00000526417.6:n.469del
ENST00000527070.5:c.*1097del	ENSP00000435149.1:n.*1097del
ENST00000531674.1:c.401del	ENSP00000431681.1:p.Phe134SerfsTer?
ENST00000532206.1:n.586del
NM_001293557.1:c.401del	NP_001280486.1:p.Phe134SerfsTer30
NM_022162.2:c.482del	NP_071445.1:p.Phe161SerfsTer30
XM_005256084.2:c.401del	XP_005256141.1:p.Phe134SerfsTer30
XM_006721242.2:c.401del	XP_006721305.1:p.Phe134SerfsTer30
XM_006721243.2:c.401del	XP_006721306.1:p.Phe134SerfsTer30
XM_011523257.1:c.-96del	XP_011521559.1:n.-96del
XM_011523258.1:c.-38+6234del	XP_011521560.1:n.-38+6234del
XM_011523259.1:c.-79del	XP_011521561.1:n.-79del
XM_011523260.1:c.401del	XP_011521562.1:p.Phe134SerfsTer30
XM_011523261.1:c.401del	XP_011521563.1:p.Phe134SerfsTer30
XR_429725.2:n.491del
XR_429726.2:n.491del
XR_933387.1:n.491del
XM_005256084.4:c.401del	XP_005256141.1:p.Phe134SerfsTer30
XM_006721242.4:c.401del	XP_006721305.1:p.Phe134SerfsTer30
XM_006721243.4:c.401del	XP_006721306.1:p.Phe134SerfsTer30
XM_011523259.2:c.-79del	XP_011521561.1:n.-79del
XM_011523260.3:c.401del	XP_011521562.1:p.Phe134SerfsTer30
XM_011523261.2:c.401del	XP_011521563.1:p.Phe134SerfsTer30
XM_017023536.1:c.-127+6234del	XP_016879025.1:n.-127+6234del
XM_017023537.1:c.-21+6234del	XP_016879026.1:n.-21+6234del
XR_429725.3:n.444del
XR_429726.3:n.444del
XR_933387.2:n.444del
NM_001293557.2:c.401del	NP_001280486.1:p.Phe134SerfsTer30
NM_001370466.1:c.401del MANE Select	NP_001357395.1:p.Phe134SerfsTer30
NM_022162.3:c.482del	NP_071445.1:p.Phe161SerfsTer30
NR_163434.1:n.466del