Canonical Allele Identifier: CA395868731

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50745167G>T (hg19) ; chr16:g.50711256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711256G>T , CM000678.2:g.50711256G>T	GRCh38
NC_000016.9:g.50745167G>T , CM000678.1:g.50745167G>T	GRCh37
NC_000016.8:g.49302668G>T	NCBI36
NG_007508.1:g.19118G>T , LRG_177:g.19118G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1264G>T	ENSP00000493088.1:p.Glu422Ter
ENST00000646677.2:c.1264G>T	ENSP00000496533.1:p.Glu422Ter
ENST00000641284.1:c.1264G>T	ENSP00000493088.1:p.Glu422Ter
ENST00000646677.1:c.1264G>T	ENSP00000496533.1:p.Glu422Ter
ENST00000647318.2:c.1264G>T MANE Select	ENSP00000495993.1:p.Glu422Ter
ENST00000300589.6:c.1345G>T	ENSP00000300589.2:p.Glu449Ter
NM_001293557.1:c.1264G>T	NP_001280486.1:p.Glu422Ter
NM_022162.2:c.1345G>T	NP_071445.1:p.Glu449Ter
XM_005256084.2:c.1264G>T	XP_005256141.1:p.Glu422Ter
XM_006721242.2:c.1264G>T	XP_006721305.1:p.Glu422Ter
XM_006721243.2:c.1264G>T	XP_006721306.1:p.Glu422Ter
XM_011523257.1:c.841G>T	XP_011521559.1:p.Glu281Ter
XM_011523258.1:c.841G>T	XP_011521560.1:p.Glu281Ter
XM_011523259.1:c.679G>T	XP_011521561.1:p.Glu227Ter
XM_011523260.1:c.1264G>T	XP_011521562.1:p.Glu422Ter
XM_011523261.1:c.1264G>T	XP_011521563.1:p.Glu422Ter
XR_429725.2:n.1354G>T
XR_429726.2:n.1354G>T
XR_933387.1:n.1354G>T
XM_005256084.4:c.1264G>T	XP_005256141.1:p.Glu422Ter
XM_006721242.4:c.1264G>T	XP_006721305.1:p.Glu422Ter
XM_006721243.4:c.1264G>T	XP_006721306.1:p.Glu422Ter
XM_011523259.2:c.679G>T	XP_011521561.1:p.Glu227Ter
XM_011523260.3:c.1264G>T	XP_011521562.1:p.Glu422Ter
XM_011523261.2:c.1264G>T	XP_011521563.1:p.Glu422Ter
XM_017023535.1:c.772G>T	XP_016879024.1:p.Glu258Ter
XM_017023536.1:c.679G>T	XP_016879025.1:p.Glu227Ter
XM_017023537.1:c.679G>T	XP_016879026.1:p.Glu227Ter
XM_017023538.1:c.679G>T	XP_016879027.1:p.Glu227Ter
XR_429725.3:n.1307G>T
XR_429726.3:n.1307G>T
XR_933387.2:n.1307G>T
NM_001293557.2:c.1264G>T	NP_001280486.1:p.Glu422Ter
NM_001370466.1:c.1264G>T MANE Select	NP_001357395.1:p.Glu422Ter
NM_022162.3:c.1345G>T	NP_071445.1:p.Glu449Ter
NR_163434.1:n.1329G>T