Canonical Allele Identifier: CA2221841510

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722664G= , CM000678.2:g.50722664G=	GRCh38
NC_000016.9:g.50756575G= , CM000678.1:g.50756575G=	GRCh37
NC_000016.8:g.49314076G=	NCBI36
NG_007508.1:g.30526G= , LRG_177:g.30526G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7154G=	ENSP00000493088.1:n.2382-7154G=
ENST00000646677.2:c.*441G=	ENSP00000496533.1:n.*441G=
ENST00000697425.1:c.503G=
ENST00000697426.1:c.391G=
ENST00000697427.1:c.307G=
ENST00000697428.1:n.2154G=
ENST00000641284.1:c.2382-7154G=	ENSP00000493088.1:n.2382-7154G=
ENST00000646677.1:c.*441G=	ENSP00000496533.1:n.*441G=
ENST00000647318.2:c.2676G= MANE Select	ENSP00000495993.1:p.Leu892=
ENST00000300589.6:c.2757G=	ENSP00000300589.2:p.Leu919=
ENST00000524712.5:c.251G=
ENST00000527052.5:c.223G=
ENST00000529633.5:c.335G=
ENST00000534057.1:c.391G=
ENST00000534067.5:c.487G=
NM_001293557.1:c.2676G=	NP_001280486.1:p.Leu892=
NM_022162.2:c.2757G=	NP_071445.1:p.Leu919=
XM_005256084.2:c.2676G=	XP_005256141.1:p.Leu892=
XM_006721242.2:c.2592G=	XP_006721305.1:p.Leu864=
XM_011523257.1:c.2253G=	XP_011521559.1:p.Leu751=
XM_011523258.1:c.2253G=	XP_011521560.1:p.Leu751=
XM_011523259.1:c.2091G=	XP_011521561.1:p.Leu697=
XR_429725.2:n.2598G=
XR_429726.2:n.2514G=
XR_933387.1:n.2794G=
XM_005256084.4:c.2676G=	XP_005256141.1:p.Leu892=
XM_006721242.4:c.2592G=	XP_006721305.1:p.Leu864=
XM_011523259.2:c.2091G=	XP_011521561.1:p.Leu697=
XM_017023535.1:c.2184G=	XP_016879024.1:p.Leu728=
XM_017023536.1:c.2091G=	XP_016879025.1:p.Leu697=
XM_017023537.1:c.2091G=	XP_016879026.1:p.Leu697=
XM_017023538.1:c.2091G=	XP_016879027.1:p.Leu697=
XR_429725.3:n.2551G=
XR_429726.3:n.2467G=
XR_933387.2:n.2747G=
NM_001293557.2:c.2676G=	NP_001280486.1:p.Leu892=
NM_001370466.1:c.2676G= MANE Select	NP_001357395.1:p.Leu892=
NM_022162.3:c.2757G=	NP_071445.1:p.Leu919=
NR_163434.1:n.2888G=