Canonical Allele Identifier: CA395875141

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756570G>C (hg19) ; chr16:g.50722659G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722659G>C , CM000678.2:g.50722659G>C	GRCh38
NC_000016.9:g.50756570G>C , CM000678.1:g.50756570G>C	GRCh37
NC_000016.8:g.49314071G>C	NCBI36
NG_007508.1:g.30521G>C , LRG_177:g.30521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7159G>C	ENSP00000493088.1:n.2382-7159G>C
ENST00000646677.2:c.*436G>C	ENSP00000496533.1:n.*436G>C
ENST00000697425.1:c.498G>C
ENST00000697426.1:c.386G>C
ENST00000697427.1:c.302G>C
ENST00000697428.1:n.2149G>C
ENST00000641284.1:c.2382-7159G>C	ENSP00000493088.1:n.2382-7159G>C
ENST00000646677.1:c.*436G>C	ENSP00000496533.1:n.*436G>C
ENST00000647318.2:c.2671G>C MANE Select	ENSP00000495993.1:p.Ala891Pro
ENST00000300589.6:c.2752G>C	ENSP00000300589.2:p.Ala918Pro
ENST00000524712.5:c.246G>C
ENST00000527052.5:c.218G>C
ENST00000529633.5:c.330G>C
ENST00000534057.1:c.386G>C
ENST00000534067.5:c.482G>C
NM_001293557.1:c.2671G>C	NP_001280486.1:p.Ala891Pro
NM_022162.2:c.2752G>C	NP_071445.1:p.Ala918Pro
XM_005256084.2:c.2671G>C	XP_005256141.1:p.Ala891Pro
XM_006721242.2:c.2587G>C	XP_006721305.1:p.Ala863Pro
XM_011523257.1:c.2248G>C	XP_011521559.1:p.Ala750Pro
XM_011523258.1:c.2248G>C	XP_011521560.1:p.Ala750Pro
XM_011523259.1:c.2086G>C	XP_011521561.1:p.Ala696Pro
XR_429725.2:n.2593G>C
XR_429726.2:n.2509G>C
XR_933387.1:n.2789G>C
XM_005256084.4:c.2671G>C	XP_005256141.1:p.Ala891Pro
XM_006721242.4:c.2587G>C	XP_006721305.1:p.Ala863Pro
XM_011523259.2:c.2086G>C	XP_011521561.1:p.Ala696Pro
XM_017023535.1:c.2179G>C	XP_016879024.1:p.Ala727Pro
XM_017023536.1:c.2086G>C	XP_016879025.1:p.Ala696Pro
XM_017023537.1:c.2086G>C	XP_016879026.1:p.Ala696Pro
XM_017023538.1:c.2086G>C	XP_016879027.1:p.Ala696Pro
XR_429725.3:n.2546G>C
XR_429726.3:n.2462G>C
XR_933387.2:n.2742G>C
NM_001293557.2:c.2671G>C	NP_001280486.1:p.Ala891Pro
NM_001370466.1:c.2671G>C MANE Select	NP_001357395.1:p.Ala891Pro
NM_022162.3:c.2752G>C	NP_071445.1:p.Ala918Pro
NR_163434.1:n.2883G>C