Canonical Allele Identifier: CA395876847

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763784G>T (hg19) ; chr16:g.50729873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729873G>T , CM000678.2:g.50729873G>T	GRCh38
NC_000016.9:g.50763784G>T , CM000678.1:g.50763784G>T	GRCh37
NC_000016.8:g.49321285G>T	NCBI36
NG_007508.1:g.37735G>T , LRG_177:g.37735G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*55G>T	ENSP00000493088.1:n.*55G>T
ENST00000646677.2:c.*706G>T	ENSP00000496533.1:n.*706G>T
ENST00000697428.1:n.2419G>T
ENST00000641284.1:c.*55G>T	ENSP00000493088.1:n.*55G>T
ENST00000646677.1:c.*706G>T	ENSP00000496533.1:n.*706G>T
ENST00000647318.2:c.2941G>T MANE Select	ENSP00000495993.1:p.Glu981Ter
ENST00000300589.6:c.3022G>T	ENSP00000300589.2:p.Glu1008Ter
NM_001293557.1:c.2941G>T	NP_001280486.1:p.Glu981Ter
NM_022162.2:c.3022G>T	NP_071445.1:p.Glu1008Ter
XM_005256084.2:c.2941G>T	XP_005256141.1:p.Glu981Ter
XM_006721242.2:c.2857G>T	XP_006721305.1:p.Glu953Ter
XM_011523257.1:c.2518G>T	XP_011521559.1:p.Glu840Ter
XM_011523258.1:c.2518G>T	XP_011521560.1:p.Glu840Ter
XM_011523259.1:c.2356G>T	XP_011521561.1:p.Glu786Ter
XM_005256084.4:c.2941G>T	XP_005256141.1:p.Glu981Ter
XM_006721242.4:c.2857G>T	XP_006721305.1:p.Glu953Ter
XM_011523259.2:c.2356G>T	XP_011521561.1:p.Glu786Ter
XM_017023535.1:c.2449G>T	XP_016879024.1:p.Glu817Ter
XM_017023536.1:c.2356G>T	XP_016879025.1:p.Glu786Ter
XM_017023537.1:c.2356G>T	XP_016879026.1:p.Glu786Ter
XM_017023538.1:c.2356G>T	XP_016879027.1:p.Glu786Ter
NM_001293557.2:c.2941G>T	NP_001280486.1:p.Glu981Ter
NM_001370466.1:c.2941G>T MANE Select	NP_001357395.1:p.Glu981Ter
NM_022162.3:c.3022G>T	NP_071445.1:p.Glu1008Ter
NR_163434.1:n.3153G>T