Canonical Allele Identifier: CA2221867210

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729863G= , CM000678.2:g.50729863G=	GRCh38
NC_000016.9:g.50763774G= , CM000678.1:g.50763774G=	GRCh37
NC_000016.8:g.49321275G=	NCBI36
NG_007508.1:g.37725G= , LRG_177:g.37725G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*45G=	ENSP00000493088.1:n.*45G=
ENST00000646677.2:c.*696G=	ENSP00000496533.1:n.*696G=
ENST00000697428.1:n.2409G=
ENST00000641284.1:c.*45G=	ENSP00000493088.1:n.*45G=
ENST00000646677.1:c.*696G=	ENSP00000496533.1:n.*696G=
ENST00000647318.2:c.2931G= MANE Select	ENSP00000495993.1:p.Leu977=
ENST00000300589.6:c.3012G=	ENSP00000300589.2:p.Leu1004=
NM_001293557.1:c.2931G=	NP_001280486.1:p.Leu977=
NM_022162.2:c.3012G=	NP_071445.1:p.Leu1004=
XM_005256084.2:c.2931G=	XP_005256141.1:p.Leu977=
XM_006721242.2:c.2847G=	XP_006721305.1:p.Leu949=
XM_011523257.1:c.2508G=	XP_011521559.1:p.Leu836=
XM_011523258.1:c.2508G=	XP_011521560.1:p.Leu836=
XM_011523259.1:c.2346G=	XP_011521561.1:p.Leu782=
XM_005256084.4:c.2931G=	XP_005256141.1:p.Leu977=
XM_006721242.4:c.2847G=	XP_006721305.1:p.Leu949=
XM_011523259.2:c.2346G=	XP_011521561.1:p.Leu782=
XM_017023535.1:c.2439G=	XP_016879024.1:p.Leu813=
XM_017023536.1:c.2346G=	XP_016879025.1:p.Leu782=
XM_017023537.1:c.2346G=	XP_016879026.1:p.Leu782=
XM_017023538.1:c.2346G=	XP_016879027.1:p.Leu782=
NM_001293557.2:c.2931G=	NP_001280486.1:p.Leu977=
NM_001370466.1:c.2931G= MANE Select	NP_001357395.1:p.Leu977=
NM_022162.3:c.3012G=	NP_071445.1:p.Leu1004=
NR_163434.1:n.3143G=