Canonical Allele Identifier: CA395875261

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756599G>C (hg19) ; chr16:g.50722688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722688G>C , CM000678.2:g.50722688G>C	GRCh38
NC_000016.9:g.50756599G>C , CM000678.1:g.50756599G>C	GRCh37
NC_000016.8:g.49314100G>C	NCBI36
NG_007508.1:g.30550G>C , LRG_177:g.30550G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7130G>C	ENSP00000493088.1:n.2382-7130G>C
ENST00000646677.2:c.*465G>C	ENSP00000496533.1:n.*465G>C
ENST00000697425.1:c.527G>C
ENST00000697426.1:c.415G>C
ENST00000697427.1:c.331G>C
ENST00000697428.1:n.2178G>C
ENST00000641284.1:c.2382-7130G>C	ENSP00000493088.1:n.2382-7130G>C
ENST00000646677.1:c.*465G>C	ENSP00000496533.1:n.*465G>C
ENST00000647318.2:c.2700G>C MANE Select	ENSP00000495993.1:p.Gln900His
ENST00000300589.6:c.2781G>C	ENSP00000300589.2:p.Gln927His
ENST00000524712.5:c.275G>C
ENST00000527052.5:c.247G>C
ENST00000529633.5:c.359G>C
ENST00000534057.1:c.415G>C
ENST00000534067.5:c.511G>C
NM_001293557.1:c.2700G>C	NP_001280486.1:p.Gln900His
NM_022162.2:c.2781G>C	NP_071445.1:p.Gln927His
XM_005256084.2:c.2700G>C	XP_005256141.1:p.Gln900His
XM_006721242.2:c.2616G>C	XP_006721305.1:p.Gln872His
XM_011523257.1:c.2277G>C	XP_011521559.1:p.Gln759His
XM_011523258.1:c.2277G>C	XP_011521560.1:p.Gln759His
XM_011523259.1:c.2115G>C	XP_011521561.1:p.Gln705His
XR_429725.2:n.2622G>C
XR_429726.2:n.2538G>C
XR_933387.1:n.2818G>C
XM_005256084.4:c.2700G>C	XP_005256141.1:p.Gln900His
XM_006721242.4:c.2616G>C	XP_006721305.1:p.Gln872His
XM_011523259.2:c.2115G>C	XP_011521561.1:p.Gln705His
XM_017023535.1:c.2208G>C	XP_016879024.1:p.Gln736His
XM_017023536.1:c.2115G>C	XP_016879025.1:p.Gln705His
XM_017023537.1:c.2115G>C	XP_016879026.1:p.Gln705His
XM_017023538.1:c.2115G>C	XP_016879027.1:p.Gln705His
XR_429725.3:n.2575G>C
XR_429726.3:n.2491G>C
XR_933387.2:n.2771G>C
NM_001293557.2:c.2700G>C	NP_001280486.1:p.Gln900His
NM_001370466.1:c.2700G>C MANE Select	NP_001357395.1:p.Gln900His
NM_022162.3:c.2781G>C	NP_071445.1:p.Gln927His
NR_163434.1:n.2912G>C