Canonical Allele Identifier: CA395875178

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756580A>T (hg19) ; chr16:g.50722669A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722669A>T , CM000678.2:g.50722669A>T	GRCh38
NC_000016.9:g.50756580A>T , CM000678.1:g.50756580A>T	GRCh37
NC_000016.8:g.49314081A>T	NCBI36
NG_007508.1:g.30531A>T , LRG_177:g.30531A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7149A>T	ENSP00000493088.1:n.2382-7149A>T
ENST00000646677.2:c.*446A>T	ENSP00000496533.1:n.*446A>T
ENST00000697425.1:c.508A>T
ENST00000697426.1:c.396A>T
ENST00000697427.1:c.312A>T
ENST00000697428.1:n.2159A>T
ENST00000641284.1:c.2382-7149A>T	ENSP00000493088.1:n.2382-7149A>T
ENST00000646677.1:c.*446A>T	ENSP00000496533.1:n.*446A>T
ENST00000647318.2:c.2681A>T MANE Select	ENSP00000495993.1:p.Glu894Val
ENST00000300589.6:c.2762A>T	ENSP00000300589.2:p.Glu921Val
ENST00000524712.5:c.256A>T
ENST00000527052.5:c.228A>T
ENST00000529633.5:c.340A>T
ENST00000534057.1:c.396A>T
ENST00000534067.5:c.492A>T
NM_001293557.1:c.2681A>T	NP_001280486.1:p.Glu894Val
NM_022162.2:c.2762A>T	NP_071445.1:p.Glu921Val
XM_005256084.2:c.2681A>T	XP_005256141.1:p.Glu894Val
XM_006721242.2:c.2597A>T	XP_006721305.1:p.Glu866Val
XM_011523257.1:c.2258A>T	XP_011521559.1:p.Glu753Val
XM_011523258.1:c.2258A>T	XP_011521560.1:p.Glu753Val
XM_011523259.1:c.2096A>T	XP_011521561.1:p.Glu699Val
XR_429725.2:n.2603A>T
XR_429726.2:n.2519A>T
XR_933387.1:n.2799A>T
XM_005256084.4:c.2681A>T	XP_005256141.1:p.Glu894Val
XM_006721242.4:c.2597A>T	XP_006721305.1:p.Glu866Val
XM_011523259.2:c.2096A>T	XP_011521561.1:p.Glu699Val
XM_017023535.1:c.2189A>T	XP_016879024.1:p.Glu730Val
XM_017023536.1:c.2096A>T	XP_016879025.1:p.Glu699Val
XM_017023537.1:c.2096A>T	XP_016879026.1:p.Glu699Val
XM_017023538.1:c.2096A>T	XP_016879027.1:p.Glu699Val
XR_429725.3:n.2556A>T
XR_429726.3:n.2472A>T
XR_933387.2:n.2752A>T
NM_001293557.2:c.2681A>T	NP_001280486.1:p.Glu894Val
NM_001370466.1:c.2681A>T MANE Select	NP_001357395.1:p.Glu894Val
NM_022162.3:c.2762A>T	NP_071445.1:p.Glu921Val
NR_163434.1:n.2893A>T