Canonical Allele Identifier: CA395875284

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756604T>A (hg19) ; chr16:g.50722693T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722693T>A , CM000678.2:g.50722693T>A	GRCh38
NC_000016.9:g.50756604T>A , CM000678.1:g.50756604T>A	GRCh37
NC_000016.8:g.49314105T>A	NCBI36
NG_007508.1:g.30555T>A , LRG_177:g.30555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7125T>A	ENSP00000493088.1:n.2382-7125T>A
ENST00000646677.2:c.*470T>A	ENSP00000496533.1:n.*470T>A
ENST00000697425.1:c.532T>A
ENST00000697426.1:c.420T>A
ENST00000697427.1:c.336T>A
ENST00000697428.1:n.2183T>A
ENST00000641284.1:c.2382-7125T>A	ENSP00000493088.1:n.2382-7125T>A
ENST00000646677.1:c.*470T>A	ENSP00000496533.1:n.*470T>A
ENST00000647318.2:c.2705T>A MANE Select	ENSP00000495993.1:p.Leu902Ter
ENST00000300589.6:c.2786T>A	ENSP00000300589.2:p.Leu929Ter
ENST00000524712.5:c.280T>A
ENST00000527052.5:c.252T>A
ENST00000529633.5:c.364T>A
ENST00000534057.1:c.420T>A
ENST00000534067.5:c.516T>A
NM_001293557.1:c.2705T>A	NP_001280486.1:p.Leu902Ter
NM_022162.2:c.2786T>A	NP_071445.1:p.Leu929Ter
XM_005256084.2:c.2705T>A	XP_005256141.1:p.Leu902Ter
XM_006721242.2:c.2621T>A	XP_006721305.1:p.Leu874Ter
XM_011523257.1:c.2282T>A	XP_011521559.1:p.Leu761Ter
XM_011523258.1:c.2282T>A	XP_011521560.1:p.Leu761Ter
XM_011523259.1:c.2120T>A	XP_011521561.1:p.Leu707Ter
XR_429725.2:n.2627T>A
XR_429726.2:n.2543T>A
XR_933387.1:n.2823T>A
XM_005256084.4:c.2705T>A	XP_005256141.1:p.Leu902Ter
XM_006721242.4:c.2621T>A	XP_006721305.1:p.Leu874Ter
XM_011523259.2:c.2120T>A	XP_011521561.1:p.Leu707Ter
XM_017023535.1:c.2213T>A	XP_016879024.1:p.Leu738Ter
XM_017023536.1:c.2120T>A	XP_016879025.1:p.Leu707Ter
XM_017023537.1:c.2120T>A	XP_016879026.1:p.Leu707Ter
XM_017023538.1:c.2120T>A	XP_016879027.1:p.Leu707Ter
XR_429725.3:n.2580T>A
XR_429726.3:n.2496T>A
XR_933387.2:n.2776T>A
NM_001293557.2:c.2705T>A	NP_001280486.1:p.Leu902Ter
NM_001370466.1:c.2705T>A MANE Select	NP_001357395.1:p.Leu902Ter
NM_022162.3:c.2786T>A	NP_071445.1:p.Leu929Ter
NR_163434.1:n.2917T>A