Canonical Allele Identifier: CA395876759

Gene: NOD2

Linked Data

• gnomAD v4: 16-50729850-C-T
• MyVariant Identifiers: chr16:g.50763761C>T (hg19) ; chr16:g.50729850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50729850C>T , CM000678.2:g.50729850C>T	GRCh38
NC_000016.9:g.50763761C>T , CM000678.1:g.50763761C>T	GRCh37
NC_000016.8:g.49321262C>T	NCBI36
NG_007508.1:g.37712C>T , LRG_177:g.37712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*32C>T	ENSP00000493088.1:n.*32C>T
ENST00000646677.2:c.*683C>T	ENSP00000496533.1:n.*683C>T
ENST00000697428.1:n.2396C>T
ENST00000641284.1:c.*32C>T	ENSP00000493088.1:n.*32C>T
ENST00000646677.1:c.*683C>T	ENSP00000496533.1:n.*683C>T
ENST00000647318.2:c.2918C>T MANE Select	ENSP00000495993.1:p.Ala973Val
ENST00000300589.6:c.2999C>T	ENSP00000300589.2:p.Ala1000Val
NM_001293557.1:c.2918C>T	NP_001280486.1:p.Ala973Val
NM_022162.2:c.2999C>T	NP_071445.1:p.Ala1000Val
XM_005256084.2:c.2918C>T	XP_005256141.1:p.Ala973Val
XM_006721242.2:c.2834C>T	XP_006721305.1:p.Ala945Val
XM_011523257.1:c.2495C>T	XP_011521559.1:p.Ala832Val
XM_011523258.1:c.2495C>T	XP_011521560.1:p.Ala832Val
XM_011523259.1:c.2333C>T	XP_011521561.1:p.Ala778Val
XM_005256084.4:c.2918C>T	XP_005256141.1:p.Ala973Val
XM_006721242.4:c.2834C>T	XP_006721305.1:p.Ala945Val
XM_011523259.2:c.2333C>T	XP_011521561.1:p.Ala778Val
XM_017023535.1:c.2426C>T	XP_016879024.1:p.Ala809Val
XM_017023536.1:c.2333C>T	XP_016879025.1:p.Ala778Val
XM_017023537.1:c.2333C>T	XP_016879026.1:p.Ala778Val
XM_017023538.1:c.2333C>T	XP_016879027.1:p.Ala778Val
NM_001293557.2:c.2918C>T	NP_001280486.1:p.Ala973Val
NM_001370466.1:c.2918C>T MANE Select	NP_001357395.1:p.Ala973Val
NM_022162.3:c.2999C>T	NP_071445.1:p.Ala1000Val
NR_163434.1:n.3130C>T