Canonical Allele Identifier: CA395876709

Gene: NOD2

Linked Data

• dbSNP Id: rs1567407613
• MyVariant Identifiers: chr16:g.50763749C>A (hg19) ; chr16:g.50729838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729838C>A , CM000678.2:g.50729838C>A	GRCh38
NC_000016.9:g.50763749C>A , CM000678.1:g.50763749C>A	GRCh37
NC_000016.8:g.49321250C>A	NCBI36
NG_007508.1:g.37700C>A , LRG_177:g.37700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*20C>A	ENSP00000493088.1:n.*20C>A
ENST00000646677.2:c.*671C>A	ENSP00000496533.1:n.*671C>A
ENST00000697428.1:n.2384C>A
ENST00000641284.1:c.*20C>A	ENSP00000493088.1:n.*20C>A
ENST00000646677.1:c.*671C>A	ENSP00000496533.1:n.*671C>A
ENST00000647318.2:c.2906C>A MANE Select	ENSP00000495993.1:p.Thr969Asn
ENST00000300589.6:c.2987C>A	ENSP00000300589.2:p.Thr996Asn
NM_001293557.1:c.2906C>A	NP_001280486.1:p.Thr969Asn
NM_022162.2:c.2987C>A	NP_071445.1:p.Thr996Asn
XM_005256084.2:c.2906C>A	XP_005256141.1:p.Thr969Asn
XM_006721242.2:c.2822C>A	XP_006721305.1:p.Thr941Asn
XM_011523257.1:c.2483C>A	XP_011521559.1:p.Thr828Asn
XM_011523258.1:c.2483C>A	XP_011521560.1:p.Thr828Asn
XM_011523259.1:c.2321C>A	XP_011521561.1:p.Thr774Asn
XM_005256084.4:c.2906C>A	XP_005256141.1:p.Thr969Asn
XM_006721242.4:c.2822C>A	XP_006721305.1:p.Thr941Asn
XM_011523259.2:c.2321C>A	XP_011521561.1:p.Thr774Asn
XM_017023535.1:c.2414C>A	XP_016879024.1:p.Thr805Asn
XM_017023536.1:c.2321C>A	XP_016879025.1:p.Thr774Asn
XM_017023537.1:c.2321C>A	XP_016879026.1:p.Thr774Asn
XM_017023538.1:c.2321C>A	XP_016879027.1:p.Thr774Asn
NM_001293557.2:c.2906C>A	NP_001280486.1:p.Thr969Asn
NM_001370466.1:c.2906C>A MANE Select	NP_001357395.1:p.Thr969Asn
NM_022162.3:c.2987C>A	NP_071445.1:p.Thr996Asn
NR_163434.1:n.3118C>A