Canonical Allele Identifier: CA8052021

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50725515A>G , CM000678.2:g.50725515A>G	GRCh38
NC_000016.9:g.50759426A>G , CM000678.1:g.50759426A>G	GRCh37
NC_000016.8:g.49316927A>G	NCBI36
NG_007508.1:g.33377A>G , LRG_177:g.33377A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2828A>G MANE Select	NP_001357395.1:p.Glu943Gly
ENST00000647318.2:c.2828A>G MANE Select	ENSP00000495993.1:p.Glu943Gly
NM_001293557.1:c.2828A>G	NP_001280486.1:p.Glu943Gly
NM_001293557.2:c.2828A>G	NP_001280486.1:p.Glu943Gly
NM_022162.2:c.2909A>G	NP_071445.1:p.Glu970Gly
NM_022162.3:c.2909A>G	NP_071445.1:p.Glu970Gly
NR_163434.1:n.3040A>G
ENST00000300589.6:c.2909A>G	ENSP00000300589.2:p.Glu970Gly
ENST00000641284.1:c.2382-4303A>G	ENSP00000493088.1:n.2382-4303A>G
ENST00000641284.2:c.2382-4303A>G	ENSP00000493088.1:n.2382-4303A>G
ENST00000646677.1:c.*593A>G	ENSP00000496533.1:n.*593A>G
ENST00000646677.2:c.*593A>G	ENSP00000496533.1:n.*593A>G
ENST00000697428.1:n.2306A>G
XM_005256084.2:c.2828A>G	XP_005256141.1:p.Glu943Gly
XM_005256084.4:c.2828A>G	XP_005256141.1:p.Glu943Gly
XM_006721242.2:c.2744A>G	XP_006721305.1:p.Glu915Gly
XM_006721242.4:c.2744A>G	XP_006721305.1:p.Glu915Gly
XM_011523257.1:c.2405A>G	XP_011521559.1:p.Glu802Gly
XM_011523258.1:c.2405A>G	XP_011521560.1:p.Glu802Gly
XM_011523259.1:c.2243A>G	XP_011521561.1:p.Glu748Gly
XM_011523259.2:c.2243A>G	XP_011521561.1:p.Glu748Gly
XM_017023535.1:c.2336A>G	XP_016879024.1:p.Glu779Gly
XM_017023536.1:c.2243A>G	XP_016879025.1:p.Glu748Gly
XM_017023537.1:c.2243A>G	XP_016879026.1:p.Glu748Gly
XM_017023538.1:c.2243A>G	XP_016879027.1:p.Glu748Gly