Canonical Allele Identifier: CA150320

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50725539G>A , CM000678.2:g.50725539G>A	GRCh38
NC_000016.9:g.50759450G>A , CM000678.1:g.50759450G>A	GRCh37
NC_000016.8:g.49316951G>A	NCBI36
NG_007508.1:g.33401G>A , LRG_177:g.33401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-4279G>A	ENSP00000493088.1:n.2382-4279G>A
ENST00000646677.2:c.*617G>A	ENSP00000496533.1:n.*617G>A
ENST00000697428.1:n.2330G>A
ENST00000641284.1:c.2382-4279G>A	ENSP00000493088.1:n.2382-4279G>A
ENST00000646677.1:c.*617G>A	ENSP00000496533.1:n.*617G>A
ENST00000647318.2:c.2852G>A MANE Select	ENSP00000495993.1:p.Gly951Glu
ENST00000300589.6:c.2933G>A	ENSP00000300589.2:p.Gly978Glu
NM_001293557.1:c.2852G>A	NP_001280486.1:p.Gly951Glu
NM_022162.2:c.2933G>A	NP_071445.1:p.Gly978Glu
XM_005256084.2:c.2852G>A	XP_005256141.1:p.Gly951Glu
XM_006721242.2:c.2768G>A	XP_006721305.1:p.Gly923Glu
XM_011523257.1:c.2429G>A	XP_011521559.1:p.Gly810Glu
XM_011523258.1:c.2429G>A	XP_011521560.1:p.Gly810Glu
XM_011523259.1:c.2267G>A	XP_011521561.1:p.Gly756Glu
XM_005256084.4:c.2852G>A	XP_005256141.1:p.Gly951Glu
XM_006721242.4:c.2768G>A	XP_006721305.1:p.Gly923Glu
XM_011523259.2:c.2267G>A	XP_011521561.1:p.Gly756Glu
XM_017023535.1:c.2360G>A	XP_016879024.1:p.Gly787Glu
XM_017023536.1:c.2267G>A	XP_016879025.1:p.Gly756Glu
XM_017023537.1:c.2267G>A	XP_016879026.1:p.Gly756Glu
XM_017023538.1:c.2267G>A	XP_016879027.1:p.Gly756Glu
NM_001293557.2:c.2852G>A	NP_001280486.1:p.Gly951Glu
NM_001370466.1:c.2852G>A MANE Select	NP_001357395.1:p.Gly951Glu
NM_022162.3:c.2933G>A	NP_071445.1:p.Gly978Glu
NR_163434.1:n.3064G>A