Canonical Allele Identifier: CA8051911

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50719947G>C , CM000678.2:g.50719947G>C	GRCh38
NC_000016.9:g.50753858G>C , CM000678.1:g.50753858G>C	GRCh37
NC_000016.8:g.49311359G>C	NCBI36
NG_007508.1:g.27809G>C , LRG_177:g.27809G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2572G>C MANE Select	NP_001357395.1:p.Ala858Pro
ENST00000647318.2:c.2572G>C MANE Select	ENSP00000495993.1:p.Ala858Pro
NM_001293557.1:c.2572G>C	NP_001280486.1:p.Ala858Pro
NM_001293557.2:c.2572G>C	NP_001280486.1:p.Ala858Pro
NM_022162.2:c.2653G>C	NP_071445.1:p.Ala885Pro
NM_022162.3:c.2653G>C	NP_071445.1:p.Ala885Pro
NR_163434.1:n.2784G>C
ENST00000300589.6:c.2653G>C	ENSP00000300589.2:p.Ala885Pro
ENST00000524712.5:c.209-2675G>C
ENST00000527052.5:c.181-2675G>C
ENST00000529633.5:c.231G>C
ENST00000534057.1:c.287G>C
ENST00000534067.5:c.445-2675G>C
ENST00000641284.1:c.2381+7574G>C	ENSP00000493088.1:n.2381+7574G>C
ENST00000641284.2:c.2381+7574G>C	ENSP00000493088.1:n.2381+7574G>C
ENST00000646677.1:c.*337G>C	ENSP00000496533.1:n.*337G>C
ENST00000646677.2:c.*337G>C	ENSP00000496533.1:n.*337G>C
ENST00000697425.1:c.399G>C
ENST00000697426.1:c.349-2675G>C
ENST00000697427.1:c.203G>C
ENST00000697428.1:n.2050G>C
XM_005256084.2:c.2572G>C	XP_005256141.1:p.Ala858Pro
XM_005256084.4:c.2572G>C	XP_005256141.1:p.Ala858Pro
XM_006721242.2:c.2550-2675G>C	XP_006721305.1:n.2550-2675G>C
XM_006721242.4:c.2550-2675G>C	XP_006721305.1:n.2550-2675G>C
XM_011523257.1:c.2149G>C	XP_011521559.1:p.Ala717Pro
XM_011523258.1:c.2149G>C	XP_011521560.1:p.Ala717Pro
XM_011523259.1:c.1987G>C	XP_011521561.1:p.Ala663Pro
XM_011523259.2:c.1987G>C	XP_011521561.1:p.Ala663Pro
XM_017023535.1:c.2080G>C	XP_016879024.1:p.Ala694Pro
XM_017023536.1:c.1987G>C	XP_016879025.1:p.Ala663Pro
XM_017023537.1:c.1987G>C	XP_016879026.1:p.Ala663Pro
XM_017023538.1:c.1987G>C	XP_016879027.1:p.Ala663Pro
XR_429725.2:n.2494G>C
XR_429725.3:n.2447G>C
XR_429726.2:n.2472-2675G>C
XR_429726.3:n.2425-2675G>C
XR_933387.1:n.2690G>C
XR_933387.2:n.2643G>C