Canonical Allele Identifier: CA126561

Gene: FABP2

Linked Data

• ClinVar Variation Id: 16494
• ClinVar RCV Id: RCV000017958 ; RCV001650835
• dbSNP Id: rs1799883
• ExAC: 4:120241902 T / C
• gnomAD v2: 4-120241902-T-C
• gnomAD v3: 4-119320747-T-C
• gnomAD v4: 4-119320747-T-C
• MyVariant Identifiers: chr4:g.120241902T>C (hg19) ; chr4:g.119320747T>C (hg38)
• PubMed: PMID:7883976 ; PMID:9253345 ; PMID:10946885 ; PMID:10999802 ; PMID:12161503 ; PMID:14666368 ; PMID:15572430

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119320747T>C , CM000666.2:g.119320747T>C	GRCh38
NC_000004.11:g.120241902T>C , CM000666.1:g.120241902T>C	GRCh37
NC_000004.10:g.120461350T>C	NCBI36
NG_011444.1:g.6415A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274024.4:c.163A>G MANE Select	ENSP00000274024.3:p.Thr55Ala
ENST00000274024.3:c.163A>G	ENSP00000274024.3:p.Thr55Ala
NM_000134.3:c.163A>G	NP_000125.2:p.Thr55Ala
NM_000134.4:c.163A>G MANE Select	NP_000125.2:p.Thr55Ala