Canonical Allele Identifier: CA2221841498

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722660C= , CM000678.2:g.50722660C=	GRCh38
NC_000016.9:g.50756571C= , CM000678.1:g.50756571C=	GRCh37
NC_000016.8:g.49314072C=	NCBI36
NG_007508.1:g.30522C= , LRG_177:g.30522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7158C=	ENSP00000493088.1:n.2382-7158C=
ENST00000646677.2:c.*437C=	ENSP00000496533.1:n.*437C=
ENST00000697425.1:c.499C=
ENST00000697426.1:c.387C=
ENST00000697427.1:c.303C=
ENST00000697428.1:n.2150C=
ENST00000641284.1:c.2382-7158C=	ENSP00000493088.1:n.2382-7158C=
ENST00000646677.1:c.*437C=	ENSP00000496533.1:n.*437C=
ENST00000647318.2:c.2672C= MANE Select	ENSP00000495993.1:p.Ala891=
ENST00000300589.6:c.2753C=	ENSP00000300589.2:p.Ala918=
ENST00000524712.5:c.247C=
ENST00000527052.5:c.219C=
ENST00000529633.5:c.331C=
ENST00000534057.1:c.387C=
ENST00000534067.5:c.483C=
NM_001293557.1:c.2672C=	NP_001280486.1:p.Ala891=
NM_022162.2:c.2753C=	NP_071445.1:p.Ala918=
XM_005256084.2:c.2672C=	XP_005256141.1:p.Ala891=
XM_006721242.2:c.2588C=	XP_006721305.1:p.Ala863=
XM_011523257.1:c.2249C=	XP_011521559.1:p.Ala750=
XM_011523258.1:c.2249C=	XP_011521560.1:p.Ala750=
XM_011523259.1:c.2087C=	XP_011521561.1:p.Ala696=
XR_429725.2:n.2594C=
XR_429726.2:n.2510C=
XR_933387.1:n.2790C=
XM_005256084.4:c.2672C=	XP_005256141.1:p.Ala891=
XM_006721242.4:c.2588C=	XP_006721305.1:p.Ala863=
XM_011523259.2:c.2087C=	XP_011521561.1:p.Ala696=
XM_017023535.1:c.2180C=	XP_016879024.1:p.Ala727=
XM_017023536.1:c.2087C=	XP_016879025.1:p.Ala696=
XM_017023537.1:c.2087C=	XP_016879026.1:p.Ala696=
XM_017023538.1:c.2087C=	XP_016879027.1:p.Ala696=
XR_429725.3:n.2547C=
XR_429726.3:n.2463C=
XR_933387.2:n.2743C=
NM_001293557.2:c.2672C=	NP_001280486.1:p.Ala891=
NM_001370466.1:c.2672C= MANE Select	NP_001357395.1:p.Ala891=
NM_022162.3:c.2753C=	NP_071445.1:p.Ala918=
NR_163434.1:n.2884C=