Canonical Allele Identifier: CA395875205

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756587G>C (hg19) ; chr16:g.50722676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722676G>C , CM000678.2:g.50722676G>C	GRCh38
NC_000016.9:g.50756587G>C , CM000678.1:g.50756587G>C	GRCh37
NC_000016.8:g.49314088G>C	NCBI36
NG_007508.1:g.30538G>C , LRG_177:g.30538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7142G>C	ENSP00000493088.1:n.2382-7142G>C
ENST00000646677.2:c.*453G>C	ENSP00000496533.1:n.*453G>C
ENST00000697425.1:c.515G>C
ENST00000697426.1:c.403G>C
ENST00000697427.1:c.319G>C
ENST00000697428.1:n.2166G>C
ENST00000641284.1:c.2382-7142G>C	ENSP00000493088.1:n.2382-7142G>C
ENST00000646677.1:c.*453G>C	ENSP00000496533.1:n.*453G>C
ENST00000647318.2:c.2688G>C MANE Select	ENSP00000495993.1:p.Leu896Phe
ENST00000300589.6:c.2769G>C	ENSP00000300589.2:p.Leu923Phe
ENST00000524712.5:c.263G>C
ENST00000527052.5:c.235G>C
ENST00000529633.5:c.347G>C
ENST00000534057.1:c.403G>C
ENST00000534067.5:c.499G>C
NM_001293557.1:c.2688G>C	NP_001280486.1:p.Leu896Phe
NM_022162.2:c.2769G>C	NP_071445.1:p.Leu923Phe
XM_005256084.2:c.2688G>C	XP_005256141.1:p.Leu896Phe
XM_006721242.2:c.2604G>C	XP_006721305.1:p.Leu868Phe
XM_011523257.1:c.2265G>C	XP_011521559.1:p.Leu755Phe
XM_011523258.1:c.2265G>C	XP_011521560.1:p.Leu755Phe
XM_011523259.1:c.2103G>C	XP_011521561.1:p.Leu701Phe
XR_429725.2:n.2610G>C
XR_429726.2:n.2526G>C
XR_933387.1:n.2806G>C
XM_005256084.4:c.2688G>C	XP_005256141.1:p.Leu896Phe
XM_006721242.4:c.2604G>C	XP_006721305.1:p.Leu868Phe
XM_011523259.2:c.2103G>C	XP_011521561.1:p.Leu701Phe
XM_017023535.1:c.2196G>C	XP_016879024.1:p.Leu732Phe
XM_017023536.1:c.2103G>C	XP_016879025.1:p.Leu701Phe
XM_017023537.1:c.2103G>C	XP_016879026.1:p.Leu701Phe
XM_017023538.1:c.2103G>C	XP_016879027.1:p.Leu701Phe
XR_429725.3:n.2563G>C
XR_429726.3:n.2479G>C
XR_933387.2:n.2759G>C
NM_001293557.2:c.2688G>C	NP_001280486.1:p.Leu896Phe
NM_001370466.1:c.2688G>C MANE Select	NP_001357395.1:p.Leu896Phe
NM_022162.3:c.2769G>C	NP_071445.1:p.Leu923Phe
NR_163434.1:n.2900G>C