Canonical Allele Identifier: CA2221867215

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729870_50729871delinsCT , CM000678.2:g.50729870_50729871delinsCT	GRCh38
NC_000016.9:g.50763781_50763782delinsCT , CM000678.1:g.50763781_50763782delinsCT	GRCh37
NC_000016.8:g.49321282_49321283delinsCT	NCBI36
NG_007508.1:g.37732_37733delinsCT , LRG_177:g.37732_37733delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*52_*53delinsCT	ENSP00000493088.1:n.*52_*53delinsCT
ENST00000646677.2:c.*703_*704delinsCT	ENSP00000496533.1:n.*703_*704delinsCT
ENST00000697428.1:n.2416_2417delinsCT
ENST00000641284.1:c.*52_*53delinsCT	ENSP00000493088.1:n.*52_*53delinsCT
ENST00000646677.1:c.*703_*704delinsCT	ENSP00000496533.1:n.*703_*704delinsCT
ENST00000647318.2:c.2938_2939delinsCT MANE Select	ENSP00000495993.1:p.Leu980=
ENST00000300589.6:c.3019_3020delinsCT	ENSP00000300589.2:p.Leu1007=
NM_001293557.1:c.2938_2939delinsCT	NP_001280486.1:p.Leu980=
NM_022162.2:c.3019_3020delinsCT	NP_071445.1:p.Leu1007=
XM_005256084.2:c.2938_2939delinsCT	XP_005256141.1:p.Leu980=
XM_006721242.2:c.2854_2855delinsCT	XP_006721305.1:p.Leu952=
XM_011523257.1:c.2515_2516delinsCT	XP_011521559.1:p.Leu839=
XM_011523258.1:c.2515_2516delinsCT	XP_011521560.1:p.Leu839=
XM_011523259.1:c.2353_2354delinsCT	XP_011521561.1:p.Leu785=
XM_005256084.4:c.2938_2939delinsCT	XP_005256141.1:p.Leu980=
XM_006721242.4:c.2854_2855delinsCT	XP_006721305.1:p.Leu952=
XM_011523259.2:c.2353_2354delinsCT	XP_011521561.1:p.Leu785=
XM_017023535.1:c.2446_2447delinsCT	XP_016879024.1:p.Leu816=
XM_017023536.1:c.2353_2354delinsCT	XP_016879025.1:p.Leu785=
XM_017023537.1:c.2353_2354delinsCT	XP_016879026.1:p.Leu785=
XM_017023538.1:c.2353_2354delinsCT	XP_016879027.1:p.Leu785=
NM_001293557.2:c.2938_2939delinsCT	NP_001280486.1:p.Leu980=
NM_001370466.1:c.2938_2939delinsCT MANE Select	NP_001357395.1:p.Leu980=
NM_022162.3:c.3019_3020delinsCT	NP_071445.1:p.Leu1007=
NR_163434.1:n.3150_3151delinsCT