Canonical Allele Identifier: CA395876637

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763733T>G (hg19) ; chr16:g.50729822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729822T>G , CM000678.2:g.50729822T>G	GRCh38
NC_000016.9:g.50763733T>G , CM000678.1:g.50763733T>G	GRCh37
NC_000016.8:g.49321234T>G	NCBI36
NG_007508.1:g.37684T>G , LRG_177:g.37684T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*4T>G	ENSP00000493088.1:n.*4T>G
ENST00000646677.2:c.*655T>G	ENSP00000496533.1:n.*655T>G
ENST00000697428.1:n.2368T>G
ENST00000641284.1:c.*4T>G	ENSP00000493088.1:n.*4T>G
ENST00000646677.1:c.*655T>G	ENSP00000496533.1:n.*655T>G
ENST00000647318.2:c.2890T>G MANE Select	ENSP00000495993.1:p.Ser964Ala
ENST00000300589.6:c.2971T>G	ENSP00000300589.2:p.Ser991Ala
NM_001293557.1:c.2890T>G	NP_001280486.1:p.Ser964Ala
NM_022162.2:c.2971T>G	NP_071445.1:p.Ser991Ala
XM_005256084.2:c.2890T>G	XP_005256141.1:p.Ser964Ala
XM_006721242.2:c.2806T>G	XP_006721305.1:p.Ser936Ala
XM_011523257.1:c.2467T>G	XP_011521559.1:p.Ser823Ala
XM_011523258.1:c.2467T>G	XP_011521560.1:p.Ser823Ala
XM_011523259.1:c.2305T>G	XP_011521561.1:p.Ser769Ala
XM_005256084.4:c.2890T>G	XP_005256141.1:p.Ser964Ala
XM_006721242.4:c.2806T>G	XP_006721305.1:p.Ser936Ala
XM_011523259.2:c.2305T>G	XP_011521561.1:p.Ser769Ala
XM_017023535.1:c.2398T>G	XP_016879024.1:p.Ser800Ala
XM_017023536.1:c.2305T>G	XP_016879025.1:p.Ser769Ala
XM_017023537.1:c.2305T>G	XP_016879026.1:p.Ser769Ala
XM_017023538.1:c.2305T>G	XP_016879027.1:p.Ser769Ala
NM_001293557.2:c.2890T>G	NP_001280486.1:p.Ser964Ala
NM_001370466.1:c.2890T>G MANE Select	NP_001357395.1:p.Ser964Ala
NM_022162.3:c.2971T>G	NP_071445.1:p.Ser991Ala
NR_163434.1:n.3102T>G