Canonical Allele Identifier: CA14246356

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50725358T>A , CM000678.2:g.50725358T>A	GRCh38
NC_000016.9:g.50759269T>A , CM000678.1:g.50759269T>A	GRCh37
NC_000016.8:g.49316770T>A	NCBI36
NG_007508.1:g.33220T>A , LRG_177:g.33220T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2802-131T>A MANE Select	NP_001357395.1:n.2802-131T>A
ENST00000647318.2:c.2802-131T>A MANE Select	ENSP00000495993.1:n.2802-131T>A
NM_001293557.1:c.2802-131T>A	NP_001280486.1:n.2802-131T>A
NM_001293557.2:c.2802-131T>A	NP_001280486.1:n.2802-131T>A
NM_022162.2:c.2883-131T>A	NP_071445.1:n.2883-131T>A
NM_022162.3:c.2883-131T>A	NP_071445.1:n.2883-131T>A
NR_163434.1:n.3014-131T>A
ENST00000300589.6:c.2883-131T>A	ENSP00000300589.2:n.2883-131T>A
ENST00000641284.1:c.2382-4460T>A	ENSP00000493088.1:n.2382-4460T>A
ENST00000641284.2:c.2382-4460T>A	ENSP00000493088.1:n.2382-4460T>A
ENST00000646677.1:c.*567-131T>A	ENSP00000496533.1:n.*567-131T>A
ENST00000646677.2:c.*567-131T>A	ENSP00000496533.1:n.*567-131T>A
ENST00000697428.1:n.2280-131T>A
XM_005256084.2:c.2802-131T>A	XP_005256141.1:n.2802-131T>A
XM_005256084.4:c.2802-131T>A	XP_005256141.1:n.2802-131T>A
XM_006721242.2:c.2718-131T>A	XP_006721305.1:n.2718-131T>A
XM_006721242.4:c.2718-131T>A	XP_006721305.1:n.2718-131T>A
XM_011523257.1:c.2379-131T>A	XP_011521559.1:n.2379-131T>A
XM_011523258.1:c.2379-131T>A	XP_011521560.1:n.2379-131T>A
XM_011523259.1:c.2217-131T>A	XP_011521561.1:n.2217-131T>A
XM_011523259.2:c.2217-131T>A	XP_011521561.1:n.2217-131T>A
XM_017023535.1:c.2310-131T>A	XP_016879024.1:n.2310-131T>A
XM_017023536.1:c.2217-131T>A	XP_016879025.1:n.2217-131T>A
XM_017023537.1:c.2217-131T>A	XP_016879026.1:n.2217-131T>A
XM_017023538.1:c.2217-131T>A	XP_016879027.1:n.2217-131T>A