Canonical Allele Identifier: CA395867222

Gene: NOD2

Linked Data

• ClinVar Variation Id: 493181
• ClinVar RCV Id: RCV000585126 ; RCV002530838
• dbSNP Id: rs771887760
• gnomAD v4: 16-50707945-G-T
• COSMIC: COSM4608613
• MyVariant Identifiers: chr16:g.50741856G>T (hg19) ; chr16:g.50707945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50707945G>T , CM000678.2:g.50707945G>T	GRCh38
NC_000016.9:g.50741856G>T , CM000678.1:g.50741856G>T	GRCh37
NC_000016.8:g.49299357G>T	NCBI36
NG_007508.1:g.15807G>T , LRG_177:g.15807G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.550G>T	ENSP00000493088.1:p.Ala184Ser
ENST00000646677.2:c.550G>T	ENSP00000496533.1:p.Ala184Ser
ENST00000641284.1:c.550G>T	ENSP00000493088.1:p.Ala184Ser
ENST00000646677.1:c.550G>T	ENSP00000496533.1:p.Ala184Ser
ENST00000647318.2:c.550G>T MANE Select	ENSP00000495993.1:p.Ala184Ser
ENST00000300589.6:c.631G>T	ENSP00000300589.2:p.Ala211Ser
ENST00000526417.6:n.618G>T
ENST00000527070.5:c.*1246G>T	ENSP00000435149.1:n.*1246G>T
ENST00000532206.1:n.645-2613G>T
NM_001293557.1:c.550G>T	NP_001280486.1:p.Ala184Ser
NM_022162.2:c.631G>T	NP_071445.1:p.Ala211Ser
XM_005256084.2:c.550G>T	XP_005256141.1:p.Ala184Ser
XM_006721242.2:c.550G>T	XP_006721305.1:p.Ala184Ser
XM_006721243.2:c.550G>T	XP_006721306.1:p.Ala184Ser
XM_011523257.1:c.54G>T	XP_011521559.1:p.Trp18Cys
XM_011523258.1:c.54G>T	XP_011521560.1:p.Trp18Cys
XM_011523259.1:c.-20-2613G>T	XP_011521561.1:n.-20-2613G>T
XM_011523260.1:c.550G>T	XP_011521562.1:p.Ala184Ser
XM_011523261.1:c.550G>T	XP_011521563.1:p.Ala184Ser
XR_429725.2:n.640G>T
XR_429726.2:n.640G>T
XR_933387.1:n.640G>T
XM_005256084.4:c.550G>T	XP_005256141.1:p.Ala184Ser
XM_006721242.4:c.550G>T	XP_006721305.1:p.Ala184Ser
XM_006721243.4:c.550G>T	XP_006721306.1:p.Ala184Ser
XM_011523259.2:c.-20-2613G>T	XP_011521561.1:n.-20-2613G>T
XM_011523260.3:c.550G>T	XP_011521562.1:p.Ala184Ser
XM_011523261.2:c.550G>T	XP_011521563.1:p.Ala184Ser
XM_017023536.1:c.-36G>T	XP_016879025.1:n.-36G>T
XM_017023537.1:c.-20-2613G>T	XP_016879026.1:n.-20-2613G>T
XM_017023538.1:c.-36G>T	XP_016879027.1:n.-36G>T
XR_429725.3:n.593G>T
XR_429726.3:n.593G>T
XR_933387.2:n.593G>T
NM_001293557.2:c.550G>T	NP_001280486.1:p.Ala184Ser
NM_001370466.1:c.550G>T MANE Select	NP_001357395.1:p.Ala184Ser
NM_022162.3:c.631G>T	NP_071445.1:p.Ala211Ser
NR_163434.1:n.615G>T