Canonical Allele Identifier: CA495479268

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50763782_50763783insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729871_50729872insC , CM000678.2:g.50729871_50729872insC	GRCh38
NC_000016.9:g.50763782_50763783insC , CM000678.1:g.50763782_50763783insC	GRCh37
NC_000016.8:g.49321283_49321284insC	NCBI36
NG_007508.1:g.37733_37734insC , LRG_177:g.37733_37734insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.*53_*54insC	ENSP00000493088.1:n.*53_*54insC
ENST00000646677.2:c.*704_*705insC	ENSP00000496533.1:n.*704_*705insC
ENST00000697428.1:n.2417_2418insC
ENST00000641284.1:c.*53_*54insC	ENSP00000493088.1:n.*53_*54insC
ENST00000646677.1:c.*704_*705insC	ENSP00000496533.1:n.*704_*705insC
ENST00000647318.2:c.2939_2940insC MANE Select	ENSP00000495993.1:p.Glu981Ter
ENST00000300589.6:c.3020_3021insC	ENSP00000300589.2:p.Glu1008Ter
NM_001293557.1:c.2939_2940insC	NP_001280486.1:p.Glu981Ter
NM_022162.2:c.3020_3021insC	NP_071445.1:p.Glu1008Ter
XM_005256084.2:c.2939_2940insC	XP_005256141.1:p.Glu981Ter
XM_006721242.2:c.2855_2856insC	XP_006721305.1:p.Glu953Ter
XM_011523257.1:c.2516_2517insC	XP_011521559.1:p.Glu840Ter
XM_011523258.1:c.2516_2517insC	XP_011521560.1:p.Glu840Ter
XM_011523259.1:c.2354_2355insC	XP_011521561.1:p.Glu786Ter
XM_005256084.4:c.2939_2940insC	XP_005256141.1:p.Glu981Ter
XM_006721242.4:c.2855_2856insC	XP_006721305.1:p.Glu953Ter
XM_011523259.2:c.2354_2355insC	XP_011521561.1:p.Glu786Ter
XM_017023535.1:c.2447_2448insC	XP_016879024.1:p.Glu817Ter
XM_017023536.1:c.2354_2355insC	XP_016879025.1:p.Glu786Ter
XM_017023537.1:c.2354_2355insC	XP_016879026.1:p.Glu786Ter
XM_017023538.1:c.2354_2355insC	XP_016879027.1:p.Glu786Ter
NM_001293557.2:c.2939_2940insC	NP_001280486.1:p.Glu981Ter
NM_001370466.1:c.2939_2940insC MANE Select	NP_001357395.1:p.Glu981Ter
NM_022162.3:c.3020_3021insC	NP_071445.1:p.Glu1008Ter
NR_163434.1:n.3151_3152insC