Canonical Allele Identifier: CA2633164737

Gene: NOD2

Linked Data

• gnomAD v4: 16-50712253-CCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712254_50712316del , CM000678.2:g.50712254_50712316del	GRCh38
NC_000016.9:g.50746165_50746227del , CM000678.1:g.50746165_50746227del	GRCh37
NC_000016.8:g.49303666_49303728del	NCBI36
NG_007508.1:g.20116_20178del , LRG_177:g.20116_20178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2262_2324del	ENSP00000493088.1:p.Leu755_Val775del
ENST00000646677.2:c.2262_2324del	ENSP00000496533.1:p.Leu755_Val775del
ENST00000697425.1:c.61_123del
ENST00000697426.1:c.61_123del
ENST00000697427.1:c.61_123del
ENST00000641284.1:c.2262_2324del	ENSP00000493088.1:p.Leu755_Val775del
ENST00000646677.1:c.2262_2324del	ENSP00000496533.1:p.Leu755_Val775del
ENST00000647318.2:c.2262_2324del MANE Select	ENSP00000495993.1:p.Leu755_Val775del
ENST00000300589.6:c.2343_2405del	ENSP00000300589.2:p.Leu782_Val802del
ENST00000524712.5:c.61_123del
ENST00000527052.5:c.61_123del
ENST00000529633.5:c.61_123del
ENST00000534057.1:c.61_123del
ENST00000534067.5:c.61_123del
NM_001293557.1:c.2262_2324del	NP_001280486.1:p.Leu755_Val775del
NM_022162.2:c.2343_2405del	NP_071445.1:p.Leu782_Val802del
XM_005256084.2:c.2262_2324del	XP_005256141.1:p.Leu755_Val775del
XM_006721242.2:c.2262_2324del	XP_006721305.1:p.Leu755_Val775del
XM_006721243.2:c.2262_2324del	XP_006721306.1:p.Leu755_Val775del
XM_011523257.1:c.1839_1901del	XP_011521559.1:p.Leu614_Val634del
XM_011523258.1:c.1839_1901del	XP_011521560.1:p.Leu614_Val634del
XM_011523259.1:c.1677_1739del	XP_011521561.1:p.Leu560_Val580del
XM_011523260.1:c.2262_2324del	XP_011521562.1:p.Leu755_Val775del
XM_011523261.1:c.2262_2324del	XP_011521563.1:p.Leu755_Val775del
XR_429725.2:n.2352_2414del
XR_429726.2:n.2352_2414del
XR_933387.1:n.2352_2414del
XM_005256084.4:c.2262_2324del	XP_005256141.1:p.Leu755_Val775del
XM_006721242.4:c.2262_2324del	XP_006721305.1:p.Leu755_Val775del
XM_006721243.4:c.2262_2324del	XP_006721306.1:p.Leu755_Val775del
XM_011523259.2:c.1677_1739del	XP_011521561.1:p.Leu560_Val580del
XM_011523260.3:c.2262_2324del	XP_011521562.1:p.Leu755_Val775del
XM_011523261.2:c.2262_2324del	XP_011521563.1:p.Leu755_Val775del
XM_017023535.1:c.1770_1832del	XP_016879024.1:p.Leu591_Val611del
XM_017023536.1:c.1677_1739del	XP_016879025.1:p.Leu560_Val580del
XM_017023537.1:c.1677_1739del	XP_016879026.1:p.Leu560_Val580del
XM_017023538.1:c.1677_1739del	XP_016879027.1:p.Leu560_Val580del
XR_429725.3:n.2305_2367del
XR_429726.3:n.2305_2367del
XR_933387.2:n.2305_2367del
NM_001293557.2:c.2262_2324del	NP_001280486.1:p.Leu755_Val775del
NM_001370466.1:c.2262_2324del MANE Select	NP_001357395.1:p.Leu755_Val775del
NM_022162.3:c.2343_2405del	NP_071445.1:p.Leu782_Val802del
NR_163434.1:n.2327_2389del