Canonical Allele Identifier: CA395875113

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756562G>T (hg19) ; chr16:g.50722651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722651G>T , CM000678.2:g.50722651G>T	GRCh38
NC_000016.9:g.50756562G>T , CM000678.1:g.50756562G>T	GRCh37
NC_000016.8:g.49314063G>T	NCBI36
NG_007508.1:g.30513G>T , LRG_177:g.30513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7167G>T	ENSP00000493088.1:n.2382-7167G>T
ENST00000646677.2:c.*428G>T	ENSP00000496533.1:n.*428G>T
ENST00000697425.1:c.490G>T
ENST00000697426.1:c.378G>T
ENST00000697427.1:c.294G>T
ENST00000697428.1:n.2141G>T
ENST00000641284.1:c.2382-7167G>T	ENSP00000493088.1:n.2382-7167G>T
ENST00000646677.1:c.*428G>T	ENSP00000496533.1:n.*428G>T
ENST00000647318.2:c.2663G>T MANE Select	ENSP00000495993.1:p.Gly888Val
ENST00000300589.6:c.2744G>T	ENSP00000300589.2:p.Gly915Val
ENST00000524712.5:c.238G>T
ENST00000527052.5:c.210G>T
ENST00000529633.5:c.322G>T
ENST00000534057.1:c.378G>T
ENST00000534067.5:c.474G>T
NM_001293557.1:c.2663G>T	NP_001280486.1:p.Gly888Val
NM_022162.2:c.2744G>T	NP_071445.1:p.Gly915Val
XM_005256084.2:c.2663G>T	XP_005256141.1:p.Gly888Val
XM_006721242.2:c.2579G>T	XP_006721305.1:p.Gly860Val
XM_011523257.1:c.2240G>T	XP_011521559.1:p.Gly747Val
XM_011523258.1:c.2240G>T	XP_011521560.1:p.Gly747Val
XM_011523259.1:c.2078G>T	XP_011521561.1:p.Gly693Val
XR_429725.2:n.2585G>T
XR_429726.2:n.2501G>T
XR_933387.1:n.2781G>T
XM_005256084.4:c.2663G>T	XP_005256141.1:p.Gly888Val
XM_006721242.4:c.2579G>T	XP_006721305.1:p.Gly860Val
XM_011523259.2:c.2078G>T	XP_011521561.1:p.Gly693Val
XM_017023535.1:c.2171G>T	XP_016879024.1:p.Gly724Val
XM_017023536.1:c.2078G>T	XP_016879025.1:p.Gly693Val
XM_017023537.1:c.2078G>T	XP_016879026.1:p.Gly693Val
XM_017023538.1:c.2078G>T	XP_016879027.1:p.Gly693Val
XR_429725.3:n.2538G>T
XR_429726.3:n.2454G>T
XR_933387.2:n.2734G>T
NM_001293557.2:c.2663G>T	NP_001280486.1:p.Gly888Val
NM_001370466.1:c.2663G>T MANE Select	NP_001357395.1:p.Gly888Val
NM_022162.3:c.2744G>T	NP_071445.1:p.Gly915Val
NR_163434.1:n.2875G>T