Canonical Allele Identifier: CA2633168507

Gene: NOD2

Linked Data

• gnomAD v4: 16-50731749-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50731751del , CM000678.2:g.50731751del	GRCh38
NC_000016.9:g.50765662del , CM000678.1:g.50765662del	GRCh37
NC_000016.8:g.49323163del	NCBI36
NG_007508.1:g.39613del , LRG_177:g.39613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*88del	ENSP00000493088.1:n.*88del
ENST00000646677.2:c.*739del	ENSP00000496533.1:n.*739del
ENST00000697428.1:n.2452del
ENST00000641284.1:c.*88del	ENSP00000493088.1:n.*88del
ENST00000646677.1:c.*739del	ENSP00000496533.1:n.*739del
ENST00000647318.2:c.2974del MANE Select	ENSP00000495993.1:p.Arg992GlufsTer7
ENST00000300589.6:c.3055del	ENSP00000300589.2:p.Arg1019GlufsTer7
NM_001293557.1:c.2974del	NP_001280486.1:p.Arg992GlufsTer7
NM_022162.2:c.3055del	NP_071445.1:p.Arg1019GlufsTer7
XM_005256084.2:c.2974del	XP_005256141.1:p.Arg992GlufsTer7
XM_006721242.2:c.2890del	XP_006721305.1:p.Arg964GlufsTer7
XM_011523257.1:c.2551del	XP_011521559.1:p.Arg851GlufsTer7
XM_011523258.1:c.2551del	XP_011521560.1:p.Arg851GlufsTer7
XM_011523259.1:c.2389del	XP_011521561.1:p.Arg797GlufsTer7
XM_005256084.4:c.2974del	XP_005256141.1:p.Arg992GlufsTer7
XM_006721242.4:c.2890del	XP_006721305.1:p.Arg964GlufsTer7
XM_011523259.2:c.2389del	XP_011521561.1:p.Arg797GlufsTer7
XM_017023535.1:c.2482del	XP_016879024.1:p.Arg828GlufsTer7
XM_017023536.1:c.2389del	XP_016879025.1:p.Arg797GlufsTer7
XM_017023537.1:c.2389del	XP_016879026.1:p.Arg797GlufsTer7
XM_017023538.1:c.2389del	XP_016879027.1:p.Arg797GlufsTer7
NM_001293557.2:c.2974del	NP_001280486.1:p.Arg992GlufsTer7
NM_001370466.1:c.2974del MANE Select	NP_001357395.1:p.Arg992GlufsTer7
NM_022162.3:c.3055del	NP_071445.1:p.Arg1019GlufsTer7
NR_163434.1:n.3186del