Canonical Allele Identifier: CA281275809

Gene: NOD2

Linked Data

• dbSNP Id: rs1028617012
• gnomAD v2: 16-50756669-G-A
• gnomAD v3: 16-50722758-G-A
• gnomAD v4: 16-50722758-G-A
• MyVariant Identifiers: chr16:g.50756669G>A (hg19) ; chr16:g.50722758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722758G>A , CM000678.2:g.50722758G>A	GRCh38
NC_000016.9:g.50756669G>A , CM000678.1:g.50756669G>A	GRCh37
NC_000016.8:g.49314170G>A	NCBI36
NG_007508.1:g.30620G>A , LRG_177:g.30620G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2382-7060G>A	ENSP00000493088.1:n.2382-7060G>A
ENST00000646677.2:c.*482+53G>A	ENSP00000496533.1:n.*482+53G>A
ENST00000697425.1:c.544+53G>A
ENST00000697426.1:c.432+53G>A
ENST00000697427.1:c.348+53G>A
ENST00000697428.1:n.2195+53G>A
ENST00000641284.1:c.2382-7060G>A	ENSP00000493088.1:n.2382-7060G>A
ENST00000646677.1:c.*482+53G>A	ENSP00000496533.1:n.*482+53G>A
ENST00000647318.2:c.2717+53G>A MANE Select	ENSP00000495993.1:n.2717+53G>A
ENST00000300589.6:c.2798+53G>A	ENSP00000300589.2:n.2798+53G>A
ENST00000524712.5:c.292+53G>A
ENST00000527052.5:c.264+53G>A
ENST00000529633.5:c.376+53G>A
ENST00000534057.1:c.432+53G>A
ENST00000534067.5:c.528+53G>A
NM_001293557.1:c.2717+53G>A	NP_001280486.1:n.2717+53G>A
NM_022162.2:c.2798+53G>A	NP_071445.1:n.2798+53G>A
XM_005256084.2:c.2717+53G>A	XP_005256141.1:n.2717+53G>A
XM_006721242.2:c.2633+53G>A	XP_006721305.1:n.2633+53G>A
XM_011523257.1:c.2294+53G>A	XP_011521559.1:n.2294+53G>A
XM_011523258.1:c.2294+53G>A	XP_011521560.1:n.2294+53G>A
XM_011523259.1:c.2132+53G>A	XP_011521561.1:n.2132+53G>A
XR_429725.2:n.2639+53G>A
XR_429726.2:n.2555+53G>A
XR_933387.1:n.2835+53G>A
XM_005256084.4:c.2717+53G>A	XP_005256141.1:n.2717+53G>A
XM_006721242.4:c.2633+53G>A	XP_006721305.1:n.2633+53G>A
XM_011523259.2:c.2132+53G>A	XP_011521561.1:n.2132+53G>A
XM_017023535.1:c.2225+53G>A	XP_016879024.1:n.2225+53G>A
XM_017023536.1:c.2132+53G>A	XP_016879025.1:n.2132+53G>A
XM_017023537.1:c.2132+53G>A	XP_016879026.1:n.2132+53G>A
XM_017023538.1:c.2132+53G>A	XP_016879027.1:n.2132+53G>A
XR_429725.3:n.2592+53G>A
XR_429726.3:n.2508+53G>A
XR_933387.2:n.2788+53G>A
NM_001293557.2:c.2717+53G>A	NP_001280486.1:n.2717+53G>A
NM_001370466.1:c.2717+53G>A MANE Select	NP_001357395.1:n.2717+53G>A
NM_022162.3:c.2798+53G>A	NP_071445.1:n.2798+53G>A
NR_163434.1:n.2929+53G>A