Canonical Allele Identifier: CA395876916

Gene: NOD2

Linked Data

• gnomAD v4: 16-50729888-A-C
• MyVariant Identifiers: chr16:g.50763799A>C (hg19) ; chr16:g.50729888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729888A>C , CM000678.2:g.50729888A>C	GRCh38
NC_000016.9:g.50763799A>C , CM000678.1:g.50763799A>C	GRCh37
NC_000016.8:g.49321300A>C	NCBI36
NG_007508.1:g.37750A>C , LRG_177:g.37750A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*70A>C	ENSP00000493088.1:n.*70A>C
ENST00000646677.2:c.*721A>C	ENSP00000496533.1:n.*721A>C
ENST00000697428.1:n.2434A>C
ENST00000641284.1:c.*70A>C	ENSP00000493088.1:n.*70A>C
ENST00000646677.1:c.*721A>C	ENSP00000496533.1:n.*721A>C
ENST00000647318.2:c.2956A>C MANE Select	ENSP00000495993.1:p.Ile986Leu
ENST00000300589.6:c.3037A>C	ENSP00000300589.2:p.Ile1013Leu
NM_001293557.1:c.2956A>C	NP_001280486.1:p.Ile986Leu
NM_022162.2:c.3037A>C	NP_071445.1:p.Ile1013Leu
XM_005256084.2:c.2956A>C	XP_005256141.1:p.Ile986Leu
XM_006721242.2:c.2872A>C	XP_006721305.1:p.Ile958Leu
XM_011523257.1:c.2533A>C	XP_011521559.1:p.Ile845Leu
XM_011523258.1:c.2533A>C	XP_011521560.1:p.Ile845Leu
XM_011523259.1:c.2371A>C	XP_011521561.1:p.Ile791Leu
XM_005256084.4:c.2956A>C	XP_005256141.1:p.Ile986Leu
XM_006721242.4:c.2872A>C	XP_006721305.1:p.Ile958Leu
XM_011523259.2:c.2371A>C	XP_011521561.1:p.Ile791Leu
XM_017023535.1:c.2464A>C	XP_016879024.1:p.Ile822Leu
XM_017023536.1:c.2371A>C	XP_016879025.1:p.Ile791Leu
XM_017023537.1:c.2371A>C	XP_016879026.1:p.Ile791Leu
XM_017023538.1:c.2371A>C	XP_016879027.1:p.Ile791Leu
NM_001293557.2:c.2956A>C	NP_001280486.1:p.Ile986Leu
NM_001370466.1:c.2956A>C MANE Select	NP_001357395.1:p.Ile986Leu
NM_022162.3:c.3037A>C	NP_071445.1:p.Ile1013Leu
NR_163434.1:n.3168A>C