Canonical Allele Identifier: CA2221834556

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699664T= , CM000678.2:g.50699664T=	GRCh38
NC_000016.9:g.50733575T= , CM000678.1:g.50733575T=	GRCh37
NC_000016.8:g.49291076T=	NCBI36
NG_007508.1:g.7526T= , LRG_177:g.7526T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.169T=	ENSP00000493088.1:p.Leu57=
ENST00000646677.2:c.169T=	ENSP00000496533.1:p.Leu57=
ENST00000641284.1:c.169T=	ENSP00000493088.1:p.Leu57=
ENST00000646677.1:c.169T=	ENSP00000496533.1:p.Leu57=
ENST00000647318.2:c.169T= MANE Select	ENSP00000495993.1:p.Leu57=
ENST00000300589.6:c.250T=	ENSP00000300589.2:p.Leu84=
ENST00000526417.6:n.237T=
ENST00000527070.5:c.*865T=	ENSP00000435149.1:n.*865T=
ENST00000531674.1:c.169T=	ENSP00000431681.1:p.Leu57=
ENST00000532206.1:n.354T=
NM_001293557.1:c.169T=	NP_001280486.1:p.Leu57=
NM_022162.2:c.250T=	NP_071445.1:p.Leu84=
XM_005256084.2:c.169T=	XP_005256141.1:p.Leu57=
XM_006721242.2:c.169T=	XP_006721305.1:p.Leu57=
XM_006721243.2:c.169T=	XP_006721306.1:p.Leu57=
XM_011523258.1:c.-38+6002T=	XP_011521560.1:n.-38+6002T=
XM_011523259.1:c.-311T=	XP_011521561.1:n.-311T=
XM_011523260.1:c.169T=	XP_011521562.1:p.Leu57=
XM_011523261.1:c.169T=	XP_011521563.1:p.Leu57=
XR_429725.2:n.259T=
XR_429726.2:n.259T=
XR_933387.1:n.259T=
XM_005256084.4:c.169T=	XP_005256141.1:p.Leu57=
XM_006721242.4:c.169T=	XP_006721305.1:p.Leu57=
XM_006721243.4:c.169T=	XP_006721306.1:p.Leu57=
XM_011523259.2:c.-311T=	XP_011521561.1:n.-311T=
XM_011523260.3:c.169T=	XP_011521562.1:p.Leu57=
XM_011523261.2:c.169T=	XP_011521563.1:p.Leu57=
XM_017023536.1:c.-127+6002T=	XP_016879025.1:n.-127+6002T=
XM_017023537.1:c.-21+6002T=	XP_016879026.1:n.-21+6002T=
XR_429725.3:n.212T=
XR_429726.3:n.212T=
XR_933387.2:n.212T=
NM_001293557.2:c.169T=	NP_001280486.1:p.Leu57=
NM_001370466.1:c.169T= MANE Select	NP_001357395.1:p.Leu57=
NM_022162.3:c.250T=	NP_071445.1:p.Leu84=
NR_163434.1:n.234T=