Canonical Allele Identifier: CA2221858995

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710582C= , CM000678.2:g.50710582C=	GRCh38
NC_000016.9:g.50744493C= , CM000678.1:g.50744493C=	GRCh37
NC_000016.8:g.49301994C=	NCBI36
NG_007508.1:g.18444C= , LRG_177:g.18444C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.590C=	ENSP00000493088.1:p.Ala197=
ENST00000646677.2:c.590C=	ENSP00000496533.1:p.Ala197=
ENST00000641284.1:c.590C=	ENSP00000493088.1:p.Ala197=
ENST00000646677.1:c.590C=	ENSP00000496533.1:p.Ala197=
ENST00000647318.2:c.590C= MANE Select	ENSP00000495993.1:p.Ala197=
ENST00000300589.6:c.671C=	ENSP00000300589.2:p.Ala224=
ENST00000526417.6:n.731C=
ENST00000527070.5:c.*1286C=	ENSP00000435149.1:n.*1286C=
ENST00000532206.1:n.669C=
NM_001293557.1:c.590C=	NP_001280486.1:p.Ala197=
NM_022162.2:c.671C=	NP_071445.1:p.Ala224=
XM_005256084.2:c.590C=	XP_005256141.1:p.Ala197=
XM_006721242.2:c.590C=	XP_006721305.1:p.Ala197=
XM_006721243.2:c.590C=	XP_006721306.1:p.Ala197=
XM_011523257.1:c.167C=	XP_011521559.1:p.Ala56=
XM_011523258.1:c.167C=	XP_011521560.1:p.Ala56=
XM_011523259.1:c.5C=	XP_011521561.1:p.Ala2=
XM_011523260.1:c.590C=	XP_011521562.1:p.Ala197=
XM_011523261.1:c.590C=	XP_011521563.1:p.Ala197=
XR_429725.2:n.680C=
XR_429726.2:n.680C=
XR_933387.1:n.680C=
XM_005256084.4:c.590C=	XP_005256141.1:p.Ala197=
XM_006721242.4:c.590C=	XP_006721305.1:p.Ala197=
XM_006721243.4:c.590C=	XP_006721306.1:p.Ala197=
XM_011523259.2:c.5C=	XP_011521561.1:p.Ala2=
XM_011523260.3:c.590C=	XP_011521562.1:p.Ala197=
XM_011523261.2:c.590C=	XP_011521563.1:p.Ala197=
XM_017023535.1:c.98C=	XP_016879024.1:p.Ala33=
XM_017023536.1:c.5C=	XP_016879025.1:p.Ala2=
XM_017023537.1:c.5C=	XP_016879026.1:p.Ala2=
XM_017023538.1:c.5C=	XP_016879027.1:p.Ala2=
XR_429725.3:n.633C=
XR_429726.3:n.633C=
XR_933387.2:n.633C=
NM_001293557.2:c.590C=	NP_001280486.1:p.Ala197=
NM_001370466.1:c.590C= MANE Select	NP_001357395.1:p.Ala197=
NM_022162.3:c.671C=	NP_071445.1:p.Ala224=
NR_163434.1:n.655C=