Canonical Allele Identifier: CA395876843

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763782T>G (hg19) ; chr16:g.50729871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729871T>G , CM000678.2:g.50729871T>G	GRCh38
NC_000016.9:g.50763782T>G , CM000678.1:g.50763782T>G	GRCh37
NC_000016.8:g.49321283T>G	NCBI36
NG_007508.1:g.37733T>G , LRG_177:g.37733T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*53T>G	ENSP00000493088.1:n.*53T>G
ENST00000646677.2:c.*704T>G	ENSP00000496533.1:n.*704T>G
ENST00000697428.1:n.2417T>G
ENST00000641284.1:c.*53T>G	ENSP00000493088.1:n.*53T>G
ENST00000646677.1:c.*704T>G	ENSP00000496533.1:n.*704T>G
ENST00000647318.2:c.2939T>G MANE Select	ENSP00000495993.1:p.Leu980Arg
ENST00000300589.6:c.3020T>G	ENSP00000300589.2:p.Leu1007Arg
NM_001293557.1:c.2939T>G	NP_001280486.1:p.Leu980Arg
NM_022162.2:c.3020T>G	NP_071445.1:p.Leu1007Arg
XM_005256084.2:c.2939T>G	XP_005256141.1:p.Leu980Arg
XM_006721242.2:c.2855T>G	XP_006721305.1:p.Leu952Arg
XM_011523257.1:c.2516T>G	XP_011521559.1:p.Leu839Arg
XM_011523258.1:c.2516T>G	XP_011521560.1:p.Leu839Arg
XM_011523259.1:c.2354T>G	XP_011521561.1:p.Leu785Arg
XM_005256084.4:c.2939T>G	XP_005256141.1:p.Leu980Arg
XM_006721242.4:c.2855T>G	XP_006721305.1:p.Leu952Arg
XM_011523259.2:c.2354T>G	XP_011521561.1:p.Leu785Arg
XM_017023535.1:c.2447T>G	XP_016879024.1:p.Leu816Arg
XM_017023536.1:c.2354T>G	XP_016879025.1:p.Leu785Arg
XM_017023537.1:c.2354T>G	XP_016879026.1:p.Leu785Arg
XM_017023538.1:c.2354T>G	XP_016879027.1:p.Leu785Arg
NM_001293557.2:c.2939T>G	NP_001280486.1:p.Leu980Arg
NM_001370466.1:c.2939T>G MANE Select	NP_001357395.1:p.Leu980Arg
NM_022162.3:c.3020T>G	NP_071445.1:p.Leu1007Arg
NR_163434.1:n.3151T>G