Canonical Allele Identifier: CA395876945

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763806A>G (hg19) ; chr16:g.50729895A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729895A>G , CM000678.2:g.50729895A>G	GRCh38
NC_000016.9:g.50763806A>G , CM000678.1:g.50763806A>G	GRCh37
NC_000016.8:g.49321307A>G	NCBI36
NG_007508.1:g.37757A>G , LRG_177:g.37757A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*77A>G	ENSP00000493088.1:n.*77A>G
ENST00000646677.2:c.*728A>G	ENSP00000496533.1:n.*728A>G
ENST00000697428.1:n.2441A>G
ENST00000641284.1:c.*77A>G	ENSP00000493088.1:n.*77A>G
ENST00000646677.1:c.*728A>G	ENSP00000496533.1:n.*728A>G
ENST00000647318.2:c.2963A>G MANE Select	ENSP00000495993.1:p.Glu988Gly
ENST00000300589.6:c.3044A>G	ENSP00000300589.2:p.Glu1015Gly
NM_001293557.1:c.2963A>G	NP_001280486.1:p.Glu988Gly
NM_022162.2:c.3044A>G	NP_071445.1:p.Glu1015Gly
XM_005256084.2:c.2963A>G	XP_005256141.1:p.Glu988Gly
XM_006721242.2:c.2879A>G	XP_006721305.1:p.Glu960Gly
XM_011523257.1:c.2540A>G	XP_011521559.1:p.Glu847Gly
XM_011523258.1:c.2540A>G	XP_011521560.1:p.Glu847Gly
XM_011523259.1:c.2378A>G	XP_011521561.1:p.Glu793Gly
XM_005256084.4:c.2963A>G	XP_005256141.1:p.Glu988Gly
XM_006721242.4:c.2879A>G	XP_006721305.1:p.Glu960Gly
XM_011523259.2:c.2378A>G	XP_011521561.1:p.Glu793Gly
XM_017023535.1:c.2471A>G	XP_016879024.1:p.Glu824Gly
XM_017023536.1:c.2378A>G	XP_016879025.1:p.Glu793Gly
XM_017023537.1:c.2378A>G	XP_016879026.1:p.Glu793Gly
XM_017023538.1:c.2378A>G	XP_016879027.1:p.Glu793Gly
NM_001293557.2:c.2963A>G	NP_001280486.1:p.Glu988Gly
NM_001370466.1:c.2963A>G MANE Select	NP_001357395.1:p.Glu988Gly
NM_022162.3:c.3044A>G	NP_071445.1:p.Glu1015Gly
NR_163434.1:n.3175A>G