Canonical Allele Identifier: CA281283378

Gene: NOD2

Linked Data

• dbSNP Id: rs796661546
• MyVariant Identifiers: chr16:g.50763777_50763778insC (hg19) ; chr16:g.50729866_50729867insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729866_50729867insC , CM000678.2:g.50729866_50729867insC	GRCh38
NC_000016.9:g.50763777_50763778insC , CM000678.1:g.50763777_50763778insC	GRCh37
NC_000016.8:g.49321278_49321279insC	NCBI36
NG_007508.1:g.37728_37729insC , LRG_177:g.37728_37729insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*48_*49insC	ENSP00000493088.1:n.*48_*49insC
ENST00000646677.2:c.*699_*700insC	ENSP00000496533.1:n.*699_*700insC
ENST00000697428.1:n.2412_2413insC
ENST00000641284.1:c.*48_*49insC	ENSP00000493088.1:n.*48_*49insC
ENST00000646677.1:c.*699_*700insC	ENSP00000496533.1:n.*699_*700insC
ENST00000647318.2:c.2934_2935insC MANE Select	ENSP00000495993.1:p.Ala979ArgfsTer3
ENST00000300589.6:c.3015_3016insC	ENSP00000300589.2:p.Ala1006ArgfsTer3
NM_001293557.1:c.2934_2935insC	NP_001280486.1:p.Ala979ArgfsTer3
NM_022162.2:c.3015_3016insC	NP_071445.1:p.Ala1006ArgfsTer3
XM_005256084.2:c.2934_2935insC	XP_005256141.1:p.Ala979ArgfsTer3
XM_006721242.2:c.2850_2851insC	XP_006721305.1:p.Ala951ArgfsTer3
XM_011523257.1:c.2511_2512insC	XP_011521559.1:p.Ala838ArgfsTer3
XM_011523258.1:c.2511_2512insC	XP_011521560.1:p.Ala838ArgfsTer3
XM_011523259.1:c.2349_2350insC	XP_011521561.1:p.Ala784ArgfsTer3
XM_005256084.4:c.2934_2935insC	XP_005256141.1:p.Ala979ArgfsTer3
XM_006721242.4:c.2850_2851insC	XP_006721305.1:p.Ala951ArgfsTer3
XM_011523259.2:c.2349_2350insC	XP_011521561.1:p.Ala784ArgfsTer3
XM_017023535.1:c.2442_2443insC	XP_016879024.1:p.Ala815ArgfsTer3
XM_017023536.1:c.2349_2350insC	XP_016879025.1:p.Ala784ArgfsTer3
XM_017023537.1:c.2349_2350insC	XP_016879026.1:p.Ala784ArgfsTer3
XM_017023538.1:c.2349_2350insC	XP_016879027.1:p.Ala784ArgfsTer3
NM_001293557.2:c.2934_2935insC	NP_001280486.1:p.Ala979ArgfsTer3
NM_001370466.1:c.2934_2935insC MANE Select	NP_001357395.1:p.Ala979ArgfsTer3
NM_022162.3:c.3015_3016insC	NP_071445.1:p.Ala1006ArgfsTer3
NR_163434.1:n.3146_3147insC