Canonical Allele Identifier: CA395875327

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756612C>T (hg19) ; chr16:g.50722701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722701C>T , CM000678.2:g.50722701C>T	GRCh38
NC_000016.9:g.50756612C>T , CM000678.1:g.50756612C>T	GRCh37
NC_000016.8:g.49314113C>T	NCBI36
NG_007508.1:g.30563C>T , LRG_177:g.30563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7117C>T	ENSP00000493088.1:n.2382-7117C>T
ENST00000646677.2:c.*478C>T	ENSP00000496533.1:n.*478C>T
ENST00000697425.1:c.540C>T
ENST00000697426.1:c.428C>T
ENST00000697427.1:c.344C>T
ENST00000697428.1:n.2191C>T
ENST00000641284.1:c.2382-7117C>T	ENSP00000493088.1:n.2382-7117C>T
ENST00000646677.1:c.*478C>T	ENSP00000496533.1:n.*478C>T
ENST00000647318.2:c.2713C>T MANE Select	ENSP00000495993.1:p.Leu905Phe
ENST00000300589.6:c.2794C>T	ENSP00000300589.2:p.Leu932Phe
ENST00000524712.5:c.288C>T
ENST00000527052.5:c.260C>T
ENST00000529633.5:c.372C>T
ENST00000534057.1:c.428C>T
ENST00000534067.5:c.524C>T
NM_001293557.1:c.2713C>T	NP_001280486.1:p.Leu905Phe
NM_022162.2:c.2794C>T	NP_071445.1:p.Leu932Phe
XM_005256084.2:c.2713C>T	XP_005256141.1:p.Leu905Phe
XM_006721242.2:c.2629C>T	XP_006721305.1:p.Leu877Phe
XM_011523257.1:c.2290C>T	XP_011521559.1:p.Leu764Phe
XM_011523258.1:c.2290C>T	XP_011521560.1:p.Leu764Phe
XM_011523259.1:c.2128C>T	XP_011521561.1:p.Leu710Phe
XR_429725.2:n.2635C>T
XR_429726.2:n.2551C>T
XR_933387.1:n.2831C>T
XM_005256084.4:c.2713C>T	XP_005256141.1:p.Leu905Phe
XM_006721242.4:c.2629C>T	XP_006721305.1:p.Leu877Phe
XM_011523259.2:c.2128C>T	XP_011521561.1:p.Leu710Phe
XM_017023535.1:c.2221C>T	XP_016879024.1:p.Leu741Phe
XM_017023536.1:c.2128C>T	XP_016879025.1:p.Leu710Phe
XM_017023537.1:c.2128C>T	XP_016879026.1:p.Leu710Phe
XM_017023538.1:c.2128C>T	XP_016879027.1:p.Leu710Phe
XR_429725.3:n.2588C>T
XR_429726.3:n.2504C>T
XR_933387.2:n.2784C>T
NM_001293557.2:c.2713C>T	NP_001280486.1:p.Leu905Phe
NM_001370466.1:c.2713C>T MANE Select	NP_001357395.1:p.Leu905Phe
NM_022162.3:c.2794C>T	NP_071445.1:p.Leu932Phe
NR_163434.1:n.2925C>T