Canonical Allele Identifier: CA495453377

Gene: NOD2

Linked Data

• ClinVar Variation Id: 1140782
• ClinVar RCV Id: RCV003104124
• dbSNP Id: rs778455499
• MyVariant Identifiers: chr16:g.50744476A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710565A>T , CM000678.2:g.50710565A>T	GRCh38
NC_000016.9:g.50744476A>T , CM000678.1:g.50744476A>T	GRCh37
NC_000016.8:g.49301977A>T	NCBI36
NG_007508.1:g.18427A>T , LRG_177:g.18427A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.573A>T	ENSP00000493088.1:p.Thr191=
ENST00000646677.2:c.573A>T	ENSP00000496533.1:p.Thr191=
ENST00000641284.1:c.573A>T	ENSP00000493088.1:p.Thr191=
ENST00000646677.1:c.573A>T	ENSP00000496533.1:p.Thr191=
ENST00000647318.2:c.573A>T MANE Select	ENSP00000495993.1:p.Thr191=
ENST00000300589.6:c.654A>T	ENSP00000300589.2:p.Thr218=
ENST00000526417.6:n.714A>T
ENST00000527070.5:c.*1269A>T	ENSP00000435149.1:n.*1269A>T
ENST00000532206.1:n.652A>T
NM_001293557.1:c.573A>T	NP_001280486.1:p.Thr191=
NM_022162.2:c.654A>T	NP_071445.1:p.Thr218=
XM_005256084.2:c.573A>T	XP_005256141.1:p.Thr191=
XM_006721242.2:c.573A>T	XP_006721305.1:p.Thr191=
XM_006721243.2:c.573A>T	XP_006721306.1:p.Thr191=
XM_011523257.1:c.150A>T	XP_011521559.1:p.Thr50=
XM_011523258.1:c.150A>T	XP_011521560.1:p.Thr50=
XM_011523259.1:c.-13A>T	XP_011521561.1:n.-13A>T
XM_011523260.1:c.573A>T	XP_011521562.1:p.Thr191=
XM_011523261.1:c.573A>T	XP_011521563.1:p.Thr191=
XR_429725.2:n.663A>T
XR_429726.2:n.663A>T
XR_933387.1:n.663A>T
XM_005256084.4:c.573A>T	XP_005256141.1:p.Thr191=
XM_006721242.4:c.573A>T	XP_006721305.1:p.Thr191=
XM_006721243.4:c.573A>T	XP_006721306.1:p.Thr191=
XM_011523259.2:c.-13A>T	XP_011521561.1:n.-13A>T
XM_011523260.3:c.573A>T	XP_011521562.1:p.Thr191=
XM_011523261.2:c.573A>T	XP_011521563.1:p.Thr191=
XM_017023535.1:c.81A>T	XP_016879024.1:p.Thr27=
XM_017023536.1:c.-13A>T	XP_016879025.1:n.-13A>T
XM_017023537.1:c.-13A>T	XP_016879026.1:n.-13A>T
XM_017023538.1:c.-13A>T	XP_016879027.1:n.-13A>T
XR_429725.3:n.616A>T
XR_429726.3:n.616A>T
XR_933387.2:n.616A>T
NM_001293557.2:c.573A>T	NP_001280486.1:p.Thr191=
NM_001370466.1:c.573A>T MANE Select	NP_001357395.1:p.Thr191=
NM_022162.3:c.654A>T	NP_071445.1:p.Thr218=
NR_163434.1:n.638A>T