Canonical Allele Identifier: CA395875186

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756582G>C (hg19) ; chr16:g.50722671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722671G>C , CM000678.2:g.50722671G>C	GRCh38
NC_000016.9:g.50756582G>C , CM000678.1:g.50756582G>C	GRCh37
NC_000016.8:g.49314083G>C	NCBI36
NG_007508.1:g.30533G>C , LRG_177:g.30533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7147G>C	ENSP00000493088.1:n.2382-7147G>C
ENST00000646677.2:c.*448G>C	ENSP00000496533.1:n.*448G>C
ENST00000697425.1:c.510G>C
ENST00000697426.1:c.398G>C
ENST00000697427.1:c.314G>C
ENST00000697428.1:n.2161G>C
ENST00000641284.1:c.2382-7147G>C	ENSP00000493088.1:n.2382-7147G>C
ENST00000646677.1:c.*448G>C	ENSP00000496533.1:n.*448G>C
ENST00000647318.2:c.2683G>C MANE Select	ENSP00000495993.1:p.Ala895Pro
ENST00000300589.6:c.2764G>C	ENSP00000300589.2:p.Ala922Pro
ENST00000524712.5:c.258G>C
ENST00000527052.5:c.230G>C
ENST00000529633.5:c.342G>C
ENST00000534057.1:c.398G>C
ENST00000534067.5:c.494G>C
NM_001293557.1:c.2683G>C	NP_001280486.1:p.Ala895Pro
NM_022162.2:c.2764G>C	NP_071445.1:p.Ala922Pro
XM_005256084.2:c.2683G>C	XP_005256141.1:p.Ala895Pro
XM_006721242.2:c.2599G>C	XP_006721305.1:p.Ala867Pro
XM_011523257.1:c.2260G>C	XP_011521559.1:p.Ala754Pro
XM_011523258.1:c.2260G>C	XP_011521560.1:p.Ala754Pro
XM_011523259.1:c.2098G>C	XP_011521561.1:p.Ala700Pro
XR_429725.2:n.2605G>C
XR_429726.2:n.2521G>C
XR_933387.1:n.2801G>C
XM_005256084.4:c.2683G>C	XP_005256141.1:p.Ala895Pro
XM_006721242.4:c.2599G>C	XP_006721305.1:p.Ala867Pro
XM_011523259.2:c.2098G>C	XP_011521561.1:p.Ala700Pro
XM_017023535.1:c.2191G>C	XP_016879024.1:p.Ala731Pro
XM_017023536.1:c.2098G>C	XP_016879025.1:p.Ala700Pro
XM_017023537.1:c.2098G>C	XP_016879026.1:p.Ala700Pro
XM_017023538.1:c.2098G>C	XP_016879027.1:p.Ala700Pro
XR_429725.3:n.2558G>C
XR_429726.3:n.2474G>C
XR_933387.2:n.2754G>C
NM_001293557.2:c.2683G>C	NP_001280486.1:p.Ala895Pro
NM_001370466.1:c.2683G>C MANE Select	NP_001357395.1:p.Ala895Pro
NM_022162.3:c.2764G>C	NP_071445.1:p.Ala922Pro
NR_163434.1:n.2895G>C