Canonical Allele Identifier: CA395875230

Gene: NOD2

Linked Data

• dbSNP Id: rs545734771
• gnomAD v2: 16-50756592-A-T
• gnomAD v4: 16-50722681-A-T
• MyVariant Identifiers: chr16:g.50756592A>T (hg19) ; chr16:g.50722681A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722681A>T , CM000678.2:g.50722681A>T	GRCh38
NC_000016.9:g.50756592A>T , CM000678.1:g.50756592A>T	GRCh37
NC_000016.8:g.49314093A>T	NCBI36
NG_007508.1:g.30543A>T , LRG_177:g.30543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7137A>T	ENSP00000493088.1:n.2382-7137A>T
ENST00000646677.2:c.*458A>T	ENSP00000496533.1:n.*458A>T
ENST00000697425.1:c.520A>T
ENST00000697426.1:c.408A>T
ENST00000697427.1:c.324A>T
ENST00000697428.1:n.2171A>T
ENST00000641284.1:c.2382-7137A>T	ENSP00000493088.1:n.2382-7137A>T
ENST00000646677.1:c.*458A>T	ENSP00000496533.1:n.*458A>T
ENST00000647318.2:c.2693A>T MANE Select	ENSP00000495993.1:p.Asp898Val
ENST00000300589.6:c.2774A>T	ENSP00000300589.2:p.Asp925Val
ENST00000524712.5:c.268A>T
ENST00000527052.5:c.240A>T
ENST00000529633.5:c.352A>T
ENST00000534057.1:c.408A>T
ENST00000534067.5:c.504A>T
NM_001293557.1:c.2693A>T	NP_001280486.1:p.Asp898Val
NM_022162.2:c.2774A>T	NP_071445.1:p.Asp925Val
XM_005256084.2:c.2693A>T	XP_005256141.1:p.Asp898Val
XM_006721242.2:c.2609A>T	XP_006721305.1:p.Asp870Val
XM_011523257.1:c.2270A>T	XP_011521559.1:p.Asp757Val
XM_011523258.1:c.2270A>T	XP_011521560.1:p.Asp757Val
XM_011523259.1:c.2108A>T	XP_011521561.1:p.Asp703Val
XR_429725.2:n.2615A>T
XR_429726.2:n.2531A>T
XR_933387.1:n.2811A>T
XM_005256084.4:c.2693A>T	XP_005256141.1:p.Asp898Val
XM_006721242.4:c.2609A>T	XP_006721305.1:p.Asp870Val
XM_011523259.2:c.2108A>T	XP_011521561.1:p.Asp703Val
XM_017023535.1:c.2201A>T	XP_016879024.1:p.Asp734Val
XM_017023536.1:c.2108A>T	XP_016879025.1:p.Asp703Val
XM_017023537.1:c.2108A>T	XP_016879026.1:p.Asp703Val
XM_017023538.1:c.2108A>T	XP_016879027.1:p.Asp703Val
XR_429725.3:n.2568A>T
XR_429726.3:n.2484A>T
XR_933387.2:n.2764A>T
NM_001293557.2:c.2693A>T	NP_001280486.1:p.Asp898Val
NM_001370466.1:c.2693A>T MANE Select	NP_001357395.1:p.Asp898Val
NM_022162.3:c.2774A>T	NP_071445.1:p.Asp925Val
NR_163434.1:n.2905A>T