Canonical Allele Identifier: CA395876841

Gene: NOD2

Linked Data

• dbSNP Id: rs869147565
• MyVariant Identifiers: chr16:g.50763782T>C (hg19) ; chr16:g.50729871T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*53T>C	ENSP00000493088.1:n.*53T>C
ENST00000646677.2:c.*704T>C	ENSP00000496533.1:n.*704T>C
ENST00000697428.1:n.2417T>C
ENST00000641284.1:c.*53T>C	ENSP00000493088.1:n.*53T>C
ENST00000646677.1:c.*704T>C	ENSP00000496533.1:n.*704T>C
ENST00000647318.2:c.2939T>C MANE Select	ENSP00000495993.1:p.Leu980Pro
ENST00000300589.6:c.3020T>C	ENSP00000300589.2:p.Leu1007Pro
NM_001293557.1:c.2939T>C	NP_001280486.1:p.Leu980Pro
NM_022162.2:c.3020T>C	NP_071445.1:p.Leu1007Pro
XM_005256084.2:c.2939T>C	XP_005256141.1:p.Leu980Pro
XM_006721242.2:c.2855T>C	XP_006721305.1:p.Leu952Pro
XM_011523257.1:c.2516T>C	XP_011521559.1:p.Leu839Pro
XM_011523258.1:c.2516T>C	XP_011521560.1:p.Leu839Pro
XM_011523259.1:c.2354T>C	XP_011521561.1:p.Leu785Pro
XM_005256084.4:c.2939T>C	XP_005256141.1:p.Leu980Pro
XM_006721242.4:c.2855T>C	XP_006721305.1:p.Leu952Pro
XM_011523259.2:c.2354T>C	XP_011521561.1:p.Leu785Pro
XM_017023535.1:c.2447T>C	XP_016879024.1:p.Leu816Pro
XM_017023536.1:c.2354T>C	XP_016879025.1:p.Leu785Pro
XM_017023537.1:c.2354T>C	XP_016879026.1:p.Leu785Pro
XM_017023538.1:c.2354T>C	XP_016879027.1:p.Leu785Pro
NM_001293557.2:c.2939T>C	NP_001280486.1:p.Leu980Pro
NM_001370466.1:c.2939T>C MANE Select	NP_001357395.1:p.Leu980Pro
NM_022162.3:c.3020T>C	NP_071445.1:p.Leu1007Pro
NR_163434.1:n.3151T>C