Canonical Allele Identifier: CA395876909

Gene: NOD2

Linked Data

• dbSNP Id: rs1965395105
• gnomAD v4: 16-50729886-C-G
• MyVariant Identifiers: chr16:g.50763797C>G (hg19) ; chr16:g.50729886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729886C>G , CM000678.2:g.50729886C>G	GRCh38
NC_000016.9:g.50763797C>G , CM000678.1:g.50763797C>G	GRCh37
NC_000016.8:g.49321298C>G	NCBI36
NG_007508.1:g.37748C>G , LRG_177:g.37748C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*68C>G	ENSP00000493088.1:n.*68C>G
ENST00000646677.2:c.*719C>G	ENSP00000496533.1:n.*719C>G
ENST00000697428.1:n.2432C>G
ENST00000641284.1:c.*68C>G	ENSP00000493088.1:n.*68C>G
ENST00000646677.1:c.*719C>G	ENSP00000496533.1:n.*719C>G
ENST00000647318.2:c.2954C>G MANE Select	ENSP00000495993.1:p.Thr985Ser
ENST00000300589.6:c.3035C>G	ENSP00000300589.2:p.Thr1012Ser
NM_001293557.1:c.2954C>G	NP_001280486.1:p.Thr985Ser
NM_022162.2:c.3035C>G	NP_071445.1:p.Thr1012Ser
XM_005256084.2:c.2954C>G	XP_005256141.1:p.Thr985Ser
XM_006721242.2:c.2870C>G	XP_006721305.1:p.Thr957Ser
XM_011523257.1:c.2531C>G	XP_011521559.1:p.Thr844Ser
XM_011523258.1:c.2531C>G	XP_011521560.1:p.Thr844Ser
XM_011523259.1:c.2369C>G	XP_011521561.1:p.Thr790Ser
XM_005256084.4:c.2954C>G	XP_005256141.1:p.Thr985Ser
XM_006721242.4:c.2870C>G	XP_006721305.1:p.Thr957Ser
XM_011523259.2:c.2369C>G	XP_011521561.1:p.Thr790Ser
XM_017023535.1:c.2462C>G	XP_016879024.1:p.Thr821Ser
XM_017023536.1:c.2369C>G	XP_016879025.1:p.Thr790Ser
XM_017023537.1:c.2369C>G	XP_016879026.1:p.Thr790Ser
XM_017023538.1:c.2369C>G	XP_016879027.1:p.Thr790Ser
NM_001293557.2:c.2954C>G	NP_001280486.1:p.Thr985Ser
NM_001370466.1:c.2954C>G MANE Select	NP_001357395.1:p.Thr985Ser
NM_022162.3:c.3035C>G	NP_071445.1:p.Thr1012Ser
NR_163434.1:n.3166C>G