Canonical Allele Identifier: CA8052002

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50723364C>T , CM000678.2:g.50723364C>T	GRCh38
NC_000016.9:g.50757275C>T , CM000678.1:g.50757275C>T	GRCh37
NC_000016.8:g.49314776C>T	NCBI36
NG_007508.1:g.31226C>T , LRG_177:g.31226C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2781C>T MANE Select	NP_001357395.1:p.Asn927=
ENST00000647318.2:c.2781C>T MANE Select	ENSP00000495993.1:p.Asn927=
NM_001293557.1:c.2781C>T	NP_001280486.1:p.Asn927=
NM_001293557.2:c.2781C>T	NP_001280486.1:p.Asn927=
NM_022162.2:c.2862C>T	NP_071445.1:p.Asn954=
NM_022162.3:c.2862C>T	NP_071445.1:p.Asn954=
NR_163434.1:n.2993C>T
ENST00000300589.6:c.2862C>T	ENSP00000300589.2:p.Asn954=
ENST00000524712.5:c.356C>T
ENST00000527052.5:c.328C>T
ENST00000529633.5:c.440C>T
ENST00000534057.1:c.496C>T
ENST00000534067.5:c.592C>T
ENST00000641284.1:c.2382-6454C>T	ENSP00000493088.1:n.2382-6454C>T
ENST00000641284.2:c.2382-6454C>T	ENSP00000493088.1:n.2382-6454C>T
ENST00000646677.1:c.*546C>T	ENSP00000496533.1:n.*546C>T
ENST00000646677.2:c.*546C>T	ENSP00000496533.1:n.*546C>T
ENST00000697425.1:c.608C>T
ENST00000697426.1:c.496C>T
ENST00000697427.1:c.412C>T
ENST00000697428.1:n.2259C>T
XM_005256084.2:c.2781C>T	XP_005256141.1:p.Asn927=
XM_005256084.4:c.2781C>T	XP_005256141.1:p.Asn927=
XM_006721242.2:c.2697C>T	XP_006721305.1:p.Asn899=
XM_006721242.4:c.2697C>T	XP_006721305.1:p.Asn899=
XM_011523257.1:c.2358C>T	XP_011521559.1:p.Asn786=
XM_011523258.1:c.2358C>T	XP_011521560.1:p.Asn786=
XM_011523259.1:c.2196C>T	XP_011521561.1:p.Asn732=
XM_011523259.2:c.2196C>T	XP_011521561.1:p.Asn732=
XM_017023535.1:c.2289C>T	XP_016879024.1:p.Asn763=
XM_017023536.1:c.2196C>T	XP_016879025.1:p.Asn732=
XM_017023537.1:c.2196C>T	XP_016879026.1:p.Asn732=
XM_017023538.1:c.2196C>T	XP_016879027.1:p.Asn732=
XR_429725.2:n.2703C>T
XR_429725.3:n.2656C>T
XR_429726.2:n.2619C>T
XR_429726.3:n.2572C>T
XR_933387.1:n.2899C>T
XR_933387.2:n.2852C>T