Canonical Allele Identifier: CA495778654

Gene: NOD2

Linked Data

• ClinVar Variation Id: 2952199
• ClinVar RCV Id: RCV003815350
• dbSNP Id: rs1388645396
• gnomAD v2: 16-50745266-T-C
• gnomAD v4: 16-50711355-T-C
• MyVariant Identifiers: chr16:g.50745266T>C (hg19) ; chr16:g.50711355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711355T>C , CM000678.2:g.50711355T>C	GRCh38
NC_000016.9:g.50745266T>C , CM000678.1:g.50745266T>C	GRCh37
NC_000016.8:g.49302767T>C	NCBI36
NG_007508.1:g.19217T>C , LRG_177:g.19217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1363T>C	ENSP00000493088.1:p.Leu455=
ENST00000646677.2:c.1363T>C	ENSP00000496533.1:p.Leu455=
ENST00000641284.1:c.1363T>C	ENSP00000493088.1:p.Leu455=
ENST00000646677.1:c.1363T>C	ENSP00000496533.1:p.Leu455=
ENST00000647318.2:c.1363T>C MANE Select	ENSP00000495993.1:p.Leu455=
ENST00000300589.6:c.1444T>C	ENSP00000300589.2:p.Leu482=
NM_001293557.1:c.1363T>C	NP_001280486.1:p.Leu455=
NM_022162.2:c.1444T>C	NP_071445.1:p.Leu482=
XM_005256084.2:c.1363T>C	XP_005256141.1:p.Leu455=
XM_006721242.2:c.1363T>C	XP_006721305.1:p.Leu455=
XM_006721243.2:c.1363T>C	XP_006721306.1:p.Leu455=
XM_011523257.1:c.940T>C	XP_011521559.1:p.Leu314=
XM_011523258.1:c.940T>C	XP_011521560.1:p.Leu314=
XM_011523259.1:c.778T>C	XP_011521561.1:p.Leu260=
XM_011523260.1:c.1363T>C	XP_011521562.1:p.Leu455=
XM_011523261.1:c.1363T>C	XP_011521563.1:p.Leu455=
XR_429725.2:n.1453T>C
XR_429726.2:n.1453T>C
XR_933387.1:n.1453T>C
XM_005256084.4:c.1363T>C	XP_005256141.1:p.Leu455=
XM_006721242.4:c.1363T>C	XP_006721305.1:p.Leu455=
XM_006721243.4:c.1363T>C	XP_006721306.1:p.Leu455=
XM_011523259.2:c.778T>C	XP_011521561.1:p.Leu260=
XM_011523260.3:c.1363T>C	XP_011521562.1:p.Leu455=
XM_011523261.2:c.1363T>C	XP_011521563.1:p.Leu455=
XM_017023535.1:c.871T>C	XP_016879024.1:p.Leu291=
XM_017023536.1:c.778T>C	XP_016879025.1:p.Leu260=
XM_017023537.1:c.778T>C	XP_016879026.1:p.Leu260=
XM_017023538.1:c.778T>C	XP_016879027.1:p.Leu260=
XR_429725.3:n.1406T>C
XR_429726.3:n.1406T>C
XR_933387.2:n.1406T>C
NM_001293557.2:c.1363T>C	NP_001280486.1:p.Leu455=
NM_001370466.1:c.1363T>C MANE Select	NP_001357395.1:p.Leu455=
NM_022162.3:c.1444T>C	NP_071445.1:p.Leu482=
NR_163434.1:n.1428T>C