Canonical Allele Identifier: CA495479388

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763807A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729896A>G , CM000678.2:g.50729896A>G	GRCh38
NC_000016.9:g.50763807A>G , CM000678.1:g.50763807A>G	GRCh37
NC_000016.8:g.49321308A>G	NCBI36
NG_007508.1:g.37758A>G , LRG_177:g.37758A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*78A>G	ENSP00000493088.1:n.*78A>G
ENST00000646677.2:c.*729A>G	ENSP00000496533.1:n.*729A>G
ENST00000697428.1:n.2442A>G
ENST00000641284.1:c.*78A>G	ENSP00000493088.1:n.*78A>G
ENST00000646677.1:c.*729A>G	ENSP00000496533.1:n.*729A>G
ENST00000647318.2:c.2964A>G MANE Select	ENSP00000495993.1:p.Glu988=
ENST00000300589.6:c.3045A>G	ENSP00000300589.2:p.Glu1015=
NM_001293557.1:c.2964A>G	NP_001280486.1:p.Glu988=
NM_022162.2:c.3045A>G	NP_071445.1:p.Glu1015=
XM_005256084.2:c.2964A>G	XP_005256141.1:p.Glu988=
XM_006721242.2:c.2880A>G	XP_006721305.1:p.Glu960=
XM_011523257.1:c.2541A>G	XP_011521559.1:p.Glu847=
XM_011523258.1:c.2541A>G	XP_011521560.1:p.Glu847=
XM_011523259.1:c.2379A>G	XP_011521561.1:p.Glu793=
XM_005256084.4:c.2964A>G	XP_005256141.1:p.Glu988=
XM_006721242.4:c.2880A>G	XP_006721305.1:p.Glu960=
XM_011523259.2:c.2379A>G	XP_011521561.1:p.Glu793=
XM_017023535.1:c.2472A>G	XP_016879024.1:p.Glu824=
XM_017023536.1:c.2379A>G	XP_016879025.1:p.Glu793=
XM_017023537.1:c.2379A>G	XP_016879026.1:p.Glu793=
XM_017023538.1:c.2379A>G	XP_016879027.1:p.Glu793=
NM_001293557.2:c.2964A>G	NP_001280486.1:p.Glu988=
NM_001370466.1:c.2964A>G MANE Select	NP_001357395.1:p.Glu988=
NM_022162.3:c.3045A>G	NP_071445.1:p.Glu1015=
NR_163434.1:n.3176A>G