Canonical Allele Identifier: CA721359397

Gene: NOD2

Linked Data

• dbSNP Id: rs1256835694
• gnomAD v3: 16-50722384-TC-T
• gnomAD v4: 16-50722384-TC-T
• MyVariant Identifiers: chr16:g.50756296del (hg19) ; chr16:g.50722385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722385del , CM000678.2:g.50722385del	GRCh38
NC_000016.9:g.50756296del , CM000678.1:g.50756296del	GRCh37
NC_000016.8:g.49313797del	NCBI36
NG_007508.1:g.30247del , LRG_177:g.30247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7433del	ENSP00000493088.1:n.2382-7433del
ENST00000646677.2:c.*399-237del	ENSP00000496533.1:n.*399-237del
ENST00000697425.1:c.461-237del
ENST00000697426.1:c.349-237del
ENST00000697427.1:c.265-237del
ENST00000697428.1:n.2112-237del
ENST00000641284.1:c.2382-7433del	ENSP00000493088.1:n.2382-7433del
ENST00000646677.1:c.*399-237del	ENSP00000496533.1:n.*399-237del
ENST00000647318.2:c.2634-237del MANE Select	ENSP00000495993.1:n.2634-237del
ENST00000300589.6:c.2715-237del	ENSP00000300589.2:n.2715-237del
ENST00000524712.5:c.209-237del
ENST00000527052.5:c.181-237del
ENST00000529633.5:c.293-237del
ENST00000534057.1:c.349-237del
ENST00000534067.5:c.445-237del
NM_001293557.1:c.2634-237del	NP_001280486.1:n.2634-237del
NM_022162.2:c.2715-237del	NP_071445.1:n.2715-237del
XM_005256084.2:c.2634-237del	XP_005256141.1:n.2634-237del
XM_006721242.2:c.2550-237del	XP_006721305.1:n.2550-237del
XM_011523257.1:c.2211-237del	XP_011521559.1:n.2211-237del
XM_011523258.1:c.2211-237del	XP_011521560.1:n.2211-237del
XM_011523259.1:c.2049-237del	XP_011521561.1:n.2049-237del
XR_429725.2:n.2556-237del
XR_429726.2:n.2472-237del
XR_933387.1:n.2752-237del
XM_005256084.4:c.2634-237del	XP_005256141.1:n.2634-237del
XM_006721242.4:c.2550-237del	XP_006721305.1:n.2550-237del
XM_011523259.2:c.2049-237del	XP_011521561.1:n.2049-237del
XM_017023535.1:c.2142-237del	XP_016879024.1:n.2142-237del
XM_017023536.1:c.2049-237del	XP_016879025.1:n.2049-237del
XM_017023537.1:c.2049-237del	XP_016879026.1:n.2049-237del
XM_017023538.1:c.2049-237del	XP_016879027.1:n.2049-237del
XR_429725.3:n.2509-237del
XR_429726.3:n.2425-237del
XR_933387.2:n.2705-237del
NM_001293557.2:c.2634-237del	NP_001280486.1:n.2634-237del
NM_001370466.1:c.2634-237del MANE Select	NP_001357395.1:n.2634-237del
NM_022162.3:c.2715-237del	NP_071445.1:n.2715-237del
NR_163434.1:n.2846-237del