Canonical Allele Identifier: CA2581261629

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50725636A>G , CM000678.2:g.50725636A>G	GRCh38
NC_000016.9:g.50759547A>G , CM000678.1:g.50759547A>G	GRCh37
NC_000016.8:g.49317048A>G	NCBI36
NG_007508.1:g.33498A>G , LRG_177:g.33498A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2885+64A>G MANE Select	NP_001357395.1:n.2885+64A>G
ENST00000647318.2:c.2885+64A>G MANE Select	ENSP00000495993.1:n.2885+64A>G
NM_001293557.1:c.2885+64A>G	NP_001280486.1:n.2885+64A>G
NM_001293557.2:c.2885+64A>G	NP_001280486.1:n.2885+64A>G
NM_022162.2:c.2966+64A>G	NP_071445.1:n.2966+64A>G
NM_022162.3:c.2966+64A>G	NP_071445.1:n.2966+64A>G
NR_163434.1:n.3097+64A>G
ENST00000300589.6:c.2966+64A>G	ENSP00000300589.2:n.2966+64A>G
ENST00000641284.1:c.2382-4182A>G	ENSP00000493088.1:n.2382-4182A>G
ENST00000641284.2:c.2382-4182A>G	ENSP00000493088.1:n.2382-4182A>G
ENST00000646677.1:c.*650+64A>G	ENSP00000496533.1:n.*650+64A>G
ENST00000646677.2:c.*650+64A>G	ENSP00000496533.1:n.*650+64A>G
ENST00000697428.1:n.2363+64A>G
XM_005256084.2:c.2885+64A>G	XP_005256141.1:n.2885+64A>G
XM_005256084.4:c.2885+64A>G	XP_005256141.1:n.2885+64A>G
XM_006721242.2:c.2801+64A>G	XP_006721305.1:n.2801+64A>G
XM_006721242.4:c.2801+64A>G	XP_006721305.1:n.2801+64A>G
XM_011523257.1:c.2462+64A>G	XP_011521559.1:n.2462+64A>G
XM_011523258.1:c.2462+64A>G	XP_011521560.1:n.2462+64A>G
XM_011523259.1:c.2300+64A>G	XP_011521561.1:n.2300+64A>G
XM_011523259.2:c.2300+64A>G	XP_011521561.1:n.2300+64A>G
XM_017023535.1:c.2393+64A>G	XP_016879024.1:n.2393+64A>G
XM_017023536.1:c.2300+64A>G	XP_016879025.1:n.2300+64A>G
XM_017023537.1:c.2300+64A>G	XP_016879026.1:n.2300+64A>G
XM_017023538.1:c.2300+64A>G	XP_016879027.1:n.2300+64A>G