Canonical Allele Identifier: CA2221867199

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729845_50729846delinsAG , CM000678.2:g.50729845_50729846delinsAG	GRCh38
NC_000016.9:g.50763756_50763757delinsAG , CM000678.1:g.50763756_50763757delinsAG	GRCh37
NC_000016.8:g.49321257_49321258delinsAG	NCBI36
NG_007508.1:g.37707_37708delinsAG , LRG_177:g.37707_37708delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*27_*28delinsAG	ENSP00000493088.1:n.*27_*28delinsAG
ENST00000646677.2:c.*678_*679delinsAG	ENSP00000496533.1:n.*678_*679delinsAG
ENST00000697428.1:n.2391_2392delinsAG
ENST00000641284.1:c.*27_*28delinsAG	ENSP00000493088.1:n.*27_*28delinsAG
ENST00000646677.1:c.*678_*679delinsAG	ENSP00000496533.1:n.*678_*679delinsAG
ENST00000647318.2:c.2913_2914delinsAG MANE Select	ENSP00000495993.1:p.Leu971=
ENST00000300589.6:c.2994_2995delinsAG	ENSP00000300589.2:p.Leu998=
NM_001293557.1:c.2913_2914delinsAG	NP_001280486.1:p.Leu971=
NM_022162.2:c.2994_2995delinsAG	NP_071445.1:p.Leu998=
XM_005256084.2:c.2913_2914delinsAG	XP_005256141.1:p.Leu971=
XM_006721242.2:c.2829_2830delinsAG	XP_006721305.1:p.Leu943=
XM_011523257.1:c.2490_2491delinsAG	XP_011521559.1:p.Leu830=
XM_011523258.1:c.2490_2491delinsAG	XP_011521560.1:p.Leu830=
XM_011523259.1:c.2328_2329delinsAG	XP_011521561.1:p.Leu776=
XM_005256084.4:c.2913_2914delinsAG	XP_005256141.1:p.Leu971=
XM_006721242.4:c.2829_2830delinsAG	XP_006721305.1:p.Leu943=
XM_011523259.2:c.2328_2329delinsAG	XP_011521561.1:p.Leu776=
XM_017023535.1:c.2421_2422delinsAG	XP_016879024.1:p.Leu807=
XM_017023536.1:c.2328_2329delinsAG	XP_016879025.1:p.Leu776=
XM_017023537.1:c.2328_2329delinsAG	XP_016879026.1:p.Leu776=
XM_017023538.1:c.2328_2329delinsAG	XP_016879027.1:p.Leu776=
NM_001293557.2:c.2913_2914delinsAG	NP_001280486.1:p.Leu971=
NM_001370466.1:c.2913_2914delinsAG MANE Select	NP_001357395.1:p.Leu971=
NM_022162.3:c.2994_2995delinsAG	NP_071445.1:p.Leu998=
NR_163434.1:n.3125_3126delinsAG