Canonical Allele Identifier: CA395876662

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763738T>G (hg19) ; chr16:g.50729827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729827T>G , CM000678.2:g.50729827T>G	GRCh38
NC_000016.9:g.50763738T>G , CM000678.1:g.50763738T>G	GRCh37
NC_000016.8:g.49321239T>G	NCBI36
NG_007508.1:g.37689T>G , LRG_177:g.37689T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*9T>G	ENSP00000493088.1:n.*9T>G
ENST00000646677.2:c.*660T>G	ENSP00000496533.1:n.*660T>G
ENST00000697428.1:n.2373T>G
ENST00000641284.1:c.*9T>G	ENSP00000493088.1:n.*9T>G
ENST00000646677.1:c.*660T>G	ENSP00000496533.1:n.*660T>G
ENST00000647318.2:c.2895T>G MANE Select	ENSP00000495993.1:p.Asn965Lys
ENST00000300589.6:c.2976T>G	ENSP00000300589.2:p.Asn992Lys
NM_001293557.1:c.2895T>G	NP_001280486.1:p.Asn965Lys
NM_022162.2:c.2976T>G	NP_071445.1:p.Asn992Lys
XM_005256084.2:c.2895T>G	XP_005256141.1:p.Asn965Lys
XM_006721242.2:c.2811T>G	XP_006721305.1:p.Asn937Lys
XM_011523257.1:c.2472T>G	XP_011521559.1:p.Asn824Lys
XM_011523258.1:c.2472T>G	XP_011521560.1:p.Asn824Lys
XM_011523259.1:c.2310T>G	XP_011521561.1:p.Asn770Lys
XM_005256084.4:c.2895T>G	XP_005256141.1:p.Asn965Lys
XM_006721242.4:c.2811T>G	XP_006721305.1:p.Asn937Lys
XM_011523259.2:c.2310T>G	XP_011521561.1:p.Asn770Lys
XM_017023535.1:c.2403T>G	XP_016879024.1:p.Asn801Lys
XM_017023536.1:c.2310T>G	XP_016879025.1:p.Asn770Lys
XM_017023537.1:c.2310T>G	XP_016879026.1:p.Asn770Lys
XM_017023538.1:c.2310T>G	XP_016879027.1:p.Asn770Lys
NM_001293557.2:c.2895T>G	NP_001280486.1:p.Asn965Lys
NM_001370466.1:c.2895T>G MANE Select	NP_001357395.1:p.Asn965Lys
NM_022162.3:c.2976T>G	NP_071445.1:p.Asn992Lys
NR_163434.1:n.3107T>G