Canonical Allele Identifier: CA2633162825

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699921-AATCAGGTTGCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699925_50699936del , CM000678.2:g.50699925_50699936del	GRCh38
NC_000016.9:g.50733836_50733847del , CM000678.1:g.50733836_50733847del	GRCh37
NC_000016.8:g.49291337_49291348del	NCBI36
NG_007508.1:g.7787_7798del , LRG_177:g.7787_7798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.430_441del	ENSP00000493088.1:p.Arg144_Ile147del
ENST00000646677.2:c.430_441del	ENSP00000496533.1:p.Arg144_Ile147del
ENST00000641284.1:c.430_441del	ENSP00000493088.1:p.Arg144_Ile147del
ENST00000646677.1:c.430_441del	ENSP00000496533.1:p.Arg144_Ile147del
ENST00000647318.2:c.430_441del MANE Select	ENSP00000495993.1:p.Arg144_Ile147del
ENST00000300589.6:c.511_522del	ENSP00000300589.2:p.Arg171_Ile174del
ENST00000526417.6:n.498_509del
ENST00000527070.5:c.*1126_*1137del	ENSP00000435149.1:n.*1126_*1137del
ENST00000532206.1:n.615_626del
NM_001293557.1:c.430_441del	NP_001280486.1:p.Arg144_Ile147del
NM_022162.2:c.511_522del	NP_071445.1:p.Arg171_Ile174del
XM_005256084.2:c.430_441del	XP_005256141.1:p.Arg144_Ile147del
XM_006721242.2:c.430_441del	XP_006721305.1:p.Arg144_Ile147del
XM_006721243.2:c.430_441del	XP_006721306.1:p.Arg144_Ile147del
XM_011523257.1:c.-67_-56del	XP_011521559.1:n.-67_-56del
XM_011523258.1:c.-38+6263_-38+6274del	XP_011521560.1:n.-38+6263_-38+6274del
XM_011523259.1:c.-50_-39del	XP_011521561.1:n.-50_-39del
XM_011523260.1:c.430_441del	XP_011521562.1:p.Arg144_Ile147del
XM_011523261.1:c.430_441del	XP_011521563.1:p.Arg144_Ile147del
XR_429725.2:n.520_531del
XR_429726.2:n.520_531del
XR_933387.1:n.520_531del
XM_005256084.4:c.430_441del	XP_005256141.1:p.Arg144_Ile147del
XM_006721242.4:c.430_441del	XP_006721305.1:p.Arg144_Ile147del
XM_006721243.4:c.430_441del	XP_006721306.1:p.Arg144_Ile147del
XM_011523259.2:c.-50_-39del	XP_011521561.1:n.-50_-39del
XM_011523260.3:c.430_441del	XP_011521562.1:p.Arg144_Ile147del
XM_011523261.2:c.430_441del	XP_011521563.1:p.Arg144_Ile147del
XM_017023536.1:c.-127+6263_-127+6274del	XP_016879025.1:n.-127+6263_-127+6274del
XM_017023537.1:c.-21+6263_-21+6274del	XP_016879026.1:n.-21+6263_-21+6274del
XR_429725.3:n.473_484del
XR_429726.3:n.473_484del
XR_933387.2:n.473_484del
NM_001293557.2:c.430_441del	NP_001280486.1:p.Arg144_Ile147del
NM_001370466.1:c.430_441del MANE Select	NP_001357395.1:p.Arg144_Ile147del
NM_022162.3:c.511_522del	NP_071445.1:p.Arg171_Ile174del
NR_163434.1:n.495_506del