Canonical Allele Identifier: CA395871103

Gene: NOD2

Linked Data

• gnomAD v4: 16-50712061-A-G
• MyVariant Identifiers: chr16:g.50745972A>G (hg19) ; chr16:g.50712061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712061A>G , CM000678.2:g.50712061A>G	GRCh38
NC_000016.9:g.50745972A>G , CM000678.1:g.50745972A>G	GRCh37
NC_000016.8:g.49303473A>G	NCBI36
NG_007508.1:g.19923A>G , LRG_177:g.19923A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2069A>G	ENSP00000493088.1:p.Lys690Arg
ENST00000646677.2:c.2069A>G	ENSP00000496533.1:p.Lys690Arg
ENST00000641284.1:c.2069A>G	ENSP00000493088.1:p.Lys690Arg
ENST00000646677.1:c.2069A>G	ENSP00000496533.1:p.Lys690Arg
ENST00000647318.2:c.2069A>G MANE Select	ENSP00000495993.1:p.Lys690Arg
ENST00000300589.6:c.2150A>G	ENSP00000300589.2:p.Lys717Arg
NM_001293557.1:c.2069A>G	NP_001280486.1:p.Lys690Arg
NM_022162.2:c.2150A>G	NP_071445.1:p.Lys717Arg
XM_005256084.2:c.2069A>G	XP_005256141.1:p.Lys690Arg
XM_006721242.2:c.2069A>G	XP_006721305.1:p.Lys690Arg
XM_006721243.2:c.2069A>G	XP_006721306.1:p.Lys690Arg
XM_011523257.1:c.1646A>G	XP_011521559.1:p.Lys549Arg
XM_011523258.1:c.1646A>G	XP_011521560.1:p.Lys549Arg
XM_011523259.1:c.1484A>G	XP_011521561.1:p.Lys495Arg
XM_011523260.1:c.2069A>G	XP_011521562.1:p.Lys690Arg
XM_011523261.1:c.2069A>G	XP_011521563.1:p.Lys690Arg
XR_429725.2:n.2159A>G
XR_429726.2:n.2159A>G
XR_933387.1:n.2159A>G
XM_005256084.4:c.2069A>G	XP_005256141.1:p.Lys690Arg
XM_006721242.4:c.2069A>G	XP_006721305.1:p.Lys690Arg
XM_006721243.4:c.2069A>G	XP_006721306.1:p.Lys690Arg
XM_011523259.2:c.1484A>G	XP_011521561.1:p.Lys495Arg
XM_011523260.3:c.2069A>G	XP_011521562.1:p.Lys690Arg
XM_011523261.2:c.2069A>G	XP_011521563.1:p.Lys690Arg
XM_017023535.1:c.1577A>G	XP_016879024.1:p.Lys526Arg
XM_017023536.1:c.1484A>G	XP_016879025.1:p.Lys495Arg
XM_017023537.1:c.1484A>G	XP_016879026.1:p.Lys495Arg
XM_017023538.1:c.1484A>G	XP_016879027.1:p.Lys495Arg
XR_429725.3:n.2112A>G
XR_429726.3:n.2112A>G
XR_933387.2:n.2112A>G
NM_001293557.2:c.2069A>G	NP_001280486.1:p.Lys690Arg
NM_001370466.1:c.2069A>G MANE Select	NP_001357395.1:p.Lys690Arg
NM_022162.3:c.2150A>G	NP_071445.1:p.Lys717Arg
NR_163434.1:n.2134A>G