Canonical Allele Identifier: CA2633162826

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699947-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699947_50699948insTG , CM000678.2:g.50699947_50699948insTG	GRCh38
NC_000016.9:g.50733858_50733859insTG , CM000678.1:g.50733858_50733859insTG	GRCh37
NC_000016.8:g.49291359_49291360insTG	NCBI36
NG_007508.1:g.7809_7810insTG , LRG_177:g.7809_7810insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.452_453insTG	ENSP00000493088.1:p.Gln152AlafsTer13
ENST00000646677.2:c.452_453insTG	ENSP00000496533.1:p.Gln152AlafsTer13
ENST00000641284.1:c.452_453insTG	ENSP00000493088.1:p.Gln152AlafsTer13
ENST00000646677.1:c.452_453insTG	ENSP00000496533.1:p.Gln152AlafsTer13
ENST00000647318.2:c.452_453insTG MANE Select	ENSP00000495993.1:p.Gln152AlafsTer13
ENST00000300589.6:c.533_534insTG	ENSP00000300589.2:p.Gln179AlafsTer13
ENST00000526417.6:n.520_521insTG
ENST00000527070.5:c.*1148_*1149insTG	ENSP00000435149.1:n.*1148_*1149insTG
ENST00000532206.1:n.637_638insTG
NM_001293557.1:c.452_453insTG	NP_001280486.1:p.Gln152AlafsTer13
NM_022162.2:c.533_534insTG	NP_071445.1:p.Gln179AlafsTer13
XM_005256084.2:c.452_453insTG	XP_005256141.1:p.Gln152AlafsTer13
XM_006721242.2:c.452_453insTG	XP_006721305.1:p.Gln152AlafsTer13
XM_006721243.2:c.452_453insTG	XP_006721306.1:p.Gln152AlafsTer13
XM_011523257.1:c.-45_-44insTG	XP_011521559.1:n.-45_-44insTG
XM_011523258.1:c.-38+6285_-38+6286insTG	XP_011521560.1:n.-38+6285_-38+6286insTG
XM_011523259.1:c.-28_-27insTG	XP_011521561.1:n.-28_-27insTG
XM_011523260.1:c.452_453insTG	XP_011521562.1:p.Gln152AlafsTer13
XM_011523261.1:c.452_453insTG	XP_011521563.1:p.Gln152AlafsTer13
XR_429725.2:n.542_543insTG
XR_429726.2:n.542_543insTG
XR_933387.1:n.542_543insTG
XM_005256084.4:c.452_453insTG	XP_005256141.1:p.Gln152AlafsTer13
XM_006721242.4:c.452_453insTG	XP_006721305.1:p.Gln152AlafsTer13
XM_006721243.4:c.452_453insTG	XP_006721306.1:p.Gln152AlafsTer13
XM_011523259.2:c.-28_-27insTG	XP_011521561.1:n.-28_-27insTG
XM_011523260.3:c.452_453insTG	XP_011521562.1:p.Gln152AlafsTer13
XM_011523261.2:c.452_453insTG	XP_011521563.1:p.Gln152AlafsTer13
XM_017023536.1:c.-127+6285_-127+6286insTG	XP_016879025.1:n.-127+6285_-127+6286insTG
XM_017023537.1:c.-21+6285_-21+6286insTG	XP_016879026.1:n.-21+6285_-21+6286insTG
XR_429725.3:n.495_496insTG
XR_429726.3:n.495_496insTG
XR_933387.2:n.495_496insTG
NM_001293557.2:c.452_453insTG	NP_001280486.1:p.Gln152AlafsTer13
NM_001370466.1:c.452_453insTG MANE Select	NP_001357395.1:p.Gln152AlafsTer13
NM_022162.3:c.533_534insTG	NP_071445.1:p.Gln179AlafsTer13
NR_163434.1:n.517_518insTG