Canonical Allele Identifier: CA395876829

Gene: NOD2

Linked Data

• gnomAD v4: 16-50729868-C-A
• MyVariant Identifiers: chr16:g.50763779C>A (hg19) ; chr16:g.50729868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729868C>A , CM000678.2:g.50729868C>A	GRCh38
NC_000016.9:g.50763779C>A , CM000678.1:g.50763779C>A	GRCh37
NC_000016.8:g.49321280C>A	NCBI36
NG_007508.1:g.37730C>A , LRG_177:g.37730C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*50C>A	ENSP00000493088.1:n.*50C>A
ENST00000646677.2:c.*701C>A	ENSP00000496533.1:n.*701C>A
ENST00000697428.1:n.2414C>A
ENST00000641284.1:c.*50C>A	ENSP00000493088.1:n.*50C>A
ENST00000646677.1:c.*701C>A	ENSP00000496533.1:n.*701C>A
ENST00000647318.2:c.2936C>A MANE Select	ENSP00000495993.1:p.Ala979Asp
ENST00000300589.6:c.3017C>A	ENSP00000300589.2:p.Ala1006Asp
NM_001293557.1:c.2936C>A	NP_001280486.1:p.Ala979Asp
NM_022162.2:c.3017C>A	NP_071445.1:p.Ala1006Asp
XM_005256084.2:c.2936C>A	XP_005256141.1:p.Ala979Asp
XM_006721242.2:c.2852C>A	XP_006721305.1:p.Ala951Asp
XM_011523257.1:c.2513C>A	XP_011521559.1:p.Ala838Asp
XM_011523258.1:c.2513C>A	XP_011521560.1:p.Ala838Asp
XM_011523259.1:c.2351C>A	XP_011521561.1:p.Ala784Asp
XM_005256084.4:c.2936C>A	XP_005256141.1:p.Ala979Asp
XM_006721242.4:c.2852C>A	XP_006721305.1:p.Ala951Asp
XM_011523259.2:c.2351C>A	XP_011521561.1:p.Ala784Asp
XM_017023535.1:c.2444C>A	XP_016879024.1:p.Ala815Asp
XM_017023536.1:c.2351C>A	XP_016879025.1:p.Ala784Asp
XM_017023537.1:c.2351C>A	XP_016879026.1:p.Ala784Asp
XM_017023538.1:c.2351C>A	XP_016879027.1:p.Ala784Asp
NM_001293557.2:c.2936C>A	NP_001280486.1:p.Ala979Asp
NM_001370466.1:c.2936C>A MANE Select	NP_001357395.1:p.Ala979Asp
NM_022162.3:c.3017C>A	NP_071445.1:p.Ala1006Asp
NR_163434.1:n.3148C>A