Canonical Allele Identifier: CA395875238

Gene: NOD2

Linked Data

• COSMIC: COSM224740
• MyVariant Identifiers: chr16:g.50756594C>T (hg19) ; chr16:g.50722683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722683C>T , CM000678.2:g.50722683C>T	GRCh38
NC_000016.9:g.50756594C>T , CM000678.1:g.50756594C>T	GRCh37
NC_000016.8:g.49314095C>T	NCBI36
NG_007508.1:g.30545C>T , LRG_177:g.30545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7135C>T	ENSP00000493088.1:n.2382-7135C>T
ENST00000646677.2:c.*460C>T	ENSP00000496533.1:n.*460C>T
ENST00000697425.1:c.522C>T
ENST00000697426.1:c.410C>T
ENST00000697427.1:c.326C>T
ENST00000697428.1:n.2173C>T
ENST00000641284.1:c.2382-7135C>T	ENSP00000493088.1:n.2382-7135C>T
ENST00000646677.1:c.*460C>T	ENSP00000496533.1:n.*460C>T
ENST00000647318.2:c.2695C>T MANE Select	ENSP00000495993.1:p.His899Tyr
ENST00000300589.6:c.2776C>T	ENSP00000300589.2:p.His926Tyr
ENST00000524712.5:c.270C>T
ENST00000527052.5:c.242C>T
ENST00000529633.5:c.354C>T
ENST00000534057.1:c.410C>T
ENST00000534067.5:c.506C>T
NM_001293557.1:c.2695C>T	NP_001280486.1:p.His899Tyr
NM_022162.2:c.2776C>T	NP_071445.1:p.His926Tyr
XM_005256084.2:c.2695C>T	XP_005256141.1:p.His899Tyr
XM_006721242.2:c.2611C>T	XP_006721305.1:p.His871Tyr
XM_011523257.1:c.2272C>T	XP_011521559.1:p.His758Tyr
XM_011523258.1:c.2272C>T	XP_011521560.1:p.His758Tyr
XM_011523259.1:c.2110C>T	XP_011521561.1:p.His704Tyr
XR_429725.2:n.2617C>T
XR_429726.2:n.2533C>T
XR_933387.1:n.2813C>T
XM_005256084.4:c.2695C>T	XP_005256141.1:p.His899Tyr
XM_006721242.4:c.2611C>T	XP_006721305.1:p.His871Tyr
XM_011523259.2:c.2110C>T	XP_011521561.1:p.His704Tyr
XM_017023535.1:c.2203C>T	XP_016879024.1:p.His735Tyr
XM_017023536.1:c.2110C>T	XP_016879025.1:p.His704Tyr
XM_017023537.1:c.2110C>T	XP_016879026.1:p.His704Tyr
XM_017023538.1:c.2110C>T	XP_016879027.1:p.His704Tyr
XR_429725.3:n.2570C>T
XR_429726.3:n.2486C>T
XR_933387.2:n.2766C>T
NM_001293557.2:c.2695C>T	NP_001280486.1:p.His899Tyr
NM_001370466.1:c.2695C>T MANE Select	NP_001357395.1:p.His899Tyr
NM_022162.3:c.2776C>T	NP_071445.1:p.His926Tyr
NR_163434.1:n.2907C>T