Canonical Allele Identifier: CA8051999

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50723350A>C , CM000678.2:g.50723350A>C	GRCh38
NC_000016.9:g.50757261A>C , CM000678.1:g.50757261A>C	GRCh37
NC_000016.8:g.49314762A>C	NCBI36
NG_007508.1:g.31212A>C , LRG_177:g.31212A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2767A>C MANE Select	NP_001357395.1:p.Met923Leu
ENST00000647318.2:c.2767A>C MANE Select	ENSP00000495993.1:p.Met923Leu
NM_001293557.1:c.2767A>C	NP_001280486.1:p.Met923Leu
NM_001293557.2:c.2767A>C	NP_001280486.1:p.Met923Leu
NM_022162.2:c.2848A>C	NP_071445.1:p.Met950Leu
NM_022162.3:c.2848A>C	NP_071445.1:p.Met950Leu
NR_163434.1:n.2979A>C
ENST00000300589.6:c.2848A>C	ENSP00000300589.2:p.Met950Leu
ENST00000524712.5:c.342A>C
ENST00000527052.5:c.314A>C
ENST00000529633.5:c.426A>C
ENST00000534057.1:c.482A>C
ENST00000534067.5:c.578A>C
ENST00000641284.1:c.2382-6468A>C	ENSP00000493088.1:n.2382-6468A>C
ENST00000641284.2:c.2382-6468A>C	ENSP00000493088.1:n.2382-6468A>C
ENST00000646677.1:c.*532A>C	ENSP00000496533.1:n.*532A>C
ENST00000646677.2:c.*532A>C	ENSP00000496533.1:n.*532A>C
ENST00000697425.1:c.594A>C
ENST00000697426.1:c.482A>C
ENST00000697427.1:c.398A>C
ENST00000697428.1:n.2245A>C
XM_005256084.2:c.2767A>C	XP_005256141.1:p.Met923Leu
XM_005256084.4:c.2767A>C	XP_005256141.1:p.Met923Leu
XM_006721242.2:c.2683A>C	XP_006721305.1:p.Met895Leu
XM_006721242.4:c.2683A>C	XP_006721305.1:p.Met895Leu
XM_011523257.1:c.2344A>C	XP_011521559.1:p.Met782Leu
XM_011523258.1:c.2344A>C	XP_011521560.1:p.Met782Leu
XM_011523259.1:c.2182A>C	XP_011521561.1:p.Met728Leu
XM_011523259.2:c.2182A>C	XP_011521561.1:p.Met728Leu
XM_017023535.1:c.2275A>C	XP_016879024.1:p.Met759Leu
XM_017023536.1:c.2182A>C	XP_016879025.1:p.Met728Leu
XM_017023537.1:c.2182A>C	XP_016879026.1:p.Met728Leu
XM_017023538.1:c.2182A>C	XP_016879027.1:p.Met728Leu
XR_429725.2:n.2689A>C
XR_429725.3:n.2642A>C
XR_429726.2:n.2605A>C
XR_429726.3:n.2558A>C
XR_933387.1:n.2885A>C
XR_933387.2:n.2838A>C