Canonical Allele Identifier: CA2221867197

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729843C= , CM000678.2:g.50729843C=	GRCh38
NC_000016.9:g.50763754C= , CM000678.1:g.50763754C=	GRCh37
NC_000016.8:g.49321255C=	NCBI36
NG_007508.1:g.37705C= , LRG_177:g.37705C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*25C=	ENSP00000493088.1:n.*25C=
ENST00000646677.2:c.*676C=	ENSP00000496533.1:n.*676C=
ENST00000697428.1:n.2389C=
ENST00000641284.1:c.*25C=	ENSP00000493088.1:n.*25C=
ENST00000646677.1:c.*676C=	ENSP00000496533.1:n.*676C=
ENST00000647318.2:c.2911C= MANE Select	ENSP00000495993.1:p.Leu971=
ENST00000300589.6:c.2992C=	ENSP00000300589.2:p.Leu998=
NM_001293557.1:c.2911C=	NP_001280486.1:p.Leu971=
NM_022162.2:c.2992C=	NP_071445.1:p.Leu998=
XM_005256084.2:c.2911C=	XP_005256141.1:p.Leu971=
XM_006721242.2:c.2827C=	XP_006721305.1:p.Leu943=
XM_011523257.1:c.2488C=	XP_011521559.1:p.Leu830=
XM_011523258.1:c.2488C=	XP_011521560.1:p.Leu830=
XM_011523259.1:c.2326C=	XP_011521561.1:p.Leu776=
XM_005256084.4:c.2911C=	XP_005256141.1:p.Leu971=
XM_006721242.4:c.2827C=	XP_006721305.1:p.Leu943=
XM_011523259.2:c.2326C=	XP_011521561.1:p.Leu776=
XM_017023535.1:c.2419C=	XP_016879024.1:p.Leu807=
XM_017023536.1:c.2326C=	XP_016879025.1:p.Leu776=
XM_017023537.1:c.2326C=	XP_016879026.1:p.Leu776=
XM_017023538.1:c.2326C=	XP_016879027.1:p.Leu776=
NM_001293557.2:c.2911C=	NP_001280486.1:p.Leu971=
NM_001370466.1:c.2911C= MANE Select	NP_001357395.1:p.Leu971=
NM_022162.3:c.2992C=	NP_071445.1:p.Leu998=
NR_163434.1:n.3123C=