Canonical Allele Identifier: CA281250523

Gene: NOD2

Linked Data

• dbSNP Id: rs1041479379
• gnomAD v2: 16-50733839-T-C
• gnomAD v3: 16-50699928-T-C
• gnomAD v4: 16-50699928-T-C
• MyVariant Identifiers: chr16:g.50733839T>C (hg19) ; chr16:g.50699928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699928T>C , CM000678.2:g.50699928T>C	GRCh38
NC_000016.9:g.50733839T>C , CM000678.1:g.50733839T>C	GRCh37
NC_000016.8:g.49291340T>C	NCBI36
NG_007508.1:g.7790T>C , LRG_177:g.7790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.433T>C	ENSP00000493088.1:p.Leu145=
ENST00000646677.2:c.433T>C	ENSP00000496533.1:p.Leu145=
ENST00000641284.1:c.433T>C	ENSP00000493088.1:p.Leu145=
ENST00000646677.1:c.433T>C	ENSP00000496533.1:p.Leu145=
ENST00000647318.2:c.433T>C MANE Select	ENSP00000495993.1:p.Leu145=
ENST00000300589.6:c.514T>C	ENSP00000300589.2:p.Leu172=
ENST00000526417.6:n.501T>C
ENST00000527070.5:c.*1129T>C	ENSP00000435149.1:n.*1129T>C
ENST00000531674.1:c.433T>C	ENSP00000431681.1:p.Leu145=
ENST00000532206.1:n.618T>C
NM_001293557.1:c.433T>C	NP_001280486.1:p.Leu145=
NM_022162.2:c.514T>C	NP_071445.1:p.Leu172=
XM_005256084.2:c.433T>C	XP_005256141.1:p.Leu145=
XM_006721242.2:c.433T>C	XP_006721305.1:p.Leu145=
XM_006721243.2:c.433T>C	XP_006721306.1:p.Leu145=
XM_011523257.1:c.-64T>C	XP_011521559.1:n.-64T>C
XM_011523258.1:c.-38+6266T>C	XP_011521560.1:n.-38+6266T>C
XM_011523259.1:c.-47T>C	XP_011521561.1:n.-47T>C
XM_011523260.1:c.433T>C	XP_011521562.1:p.Leu145=
XM_011523261.1:c.433T>C	XP_011521563.1:p.Leu145=
XR_429725.2:n.523T>C
XR_429726.2:n.523T>C
XR_933387.1:n.523T>C
XM_005256084.4:c.433T>C	XP_005256141.1:p.Leu145=
XM_006721242.4:c.433T>C	XP_006721305.1:p.Leu145=
XM_006721243.4:c.433T>C	XP_006721306.1:p.Leu145=
XM_011523259.2:c.-47T>C	XP_011521561.1:n.-47T>C
XM_011523260.3:c.433T>C	XP_011521562.1:p.Leu145=
XM_011523261.2:c.433T>C	XP_011521563.1:p.Leu145=
XM_017023536.1:c.-127+6266T>C	XP_016879025.1:n.-127+6266T>C
XM_017023537.1:c.-21+6266T>C	XP_016879026.1:n.-21+6266T>C
XR_429725.3:n.476T>C
XR_429726.3:n.476T>C
XR_933387.2:n.476T>C
NM_001293557.2:c.433T>C	NP_001280486.1:p.Leu145=
NM_001370466.1:c.433T>C MANE Select	NP_001357395.1:p.Leu145=
NM_022162.3:c.514T>C	NP_071445.1:p.Leu172=
NR_163434.1:n.498T>C