Canonical Allele Identifier: CA495778483

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710955A>G , CM000678.2:g.50710955A>G	GRCh38
NC_000016.9:g.50744866A>G , CM000678.1:g.50744866A>G	GRCh37
NC_000016.8:g.49302367A>G	NCBI36
NG_007508.1:g.18817A>G , LRG_177:g.18817A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.963A>G MANE Select	NP_001357395.1:p.Leu321=
ENST00000647318.2:c.963A>G MANE Select	ENSP00000495993.1:p.Leu321=
NM_001293557.1:c.963A>G	NP_001280486.1:p.Leu321=
NM_001293557.2:c.963A>G	NP_001280486.1:p.Leu321=
NM_022162.2:c.1044A>G	NP_071445.1:p.Leu348=
NM_022162.3:c.1044A>G	NP_071445.1:p.Leu348=
NR_163434.1:n.1028A>G
ENST00000300589.6:c.1044A>G	ENSP00000300589.2:p.Leu348=
ENST00000641284.1:c.963A>G	ENSP00000493088.1:p.Leu321=
ENST00000641284.2:c.963A>G	ENSP00000493088.1:p.Leu321=
ENST00000646677.1:c.963A>G	ENSP00000496533.1:p.Leu321=
ENST00000646677.2:c.963A>G	ENSP00000496533.1:p.Leu321=
XM_005256084.2:c.963A>G	XP_005256141.1:p.Leu321=
XM_005256084.4:c.963A>G	XP_005256141.1:p.Leu321=
XM_006721242.2:c.963A>G	XP_006721305.1:p.Leu321=
XM_006721242.4:c.963A>G	XP_006721305.1:p.Leu321=
XM_006721243.2:c.963A>G	XP_006721306.1:p.Leu321=
XM_006721243.4:c.963A>G	XP_006721306.1:p.Leu321=
XM_011523257.1:c.540A>G	XP_011521559.1:p.Leu180=
XM_011523258.1:c.540A>G	XP_011521560.1:p.Leu180=
XM_011523259.1:c.378A>G	XP_011521561.1:p.Leu126=
XM_011523259.2:c.378A>G	XP_011521561.1:p.Leu126=
XM_011523260.1:c.963A>G	XP_011521562.1:p.Leu321=
XM_011523260.3:c.963A>G	XP_011521562.1:p.Leu321=
XM_011523261.1:c.963A>G	XP_011521563.1:p.Leu321=
XM_011523261.2:c.963A>G	XP_011521563.1:p.Leu321=
XM_017023535.1:c.471A>G	XP_016879024.1:p.Leu157=
XM_017023536.1:c.378A>G	XP_016879025.1:p.Leu126=
XM_017023537.1:c.378A>G	XP_016879026.1:p.Leu126=
XM_017023538.1:c.378A>G	XP_016879027.1:p.Leu126=
XR_429725.2:n.1053A>G
XR_429725.3:n.1006A>G
XR_429726.2:n.1053A>G
XR_429726.3:n.1006A>G
XR_933387.1:n.1053A>G
XR_933387.2:n.1006A>G