Canonical Allele Identifier: CA104694043
Gene: FABP2 HGNC NCBI
ClinVar RCV:
RCV001609713
ClinVar Variation:
1229473
dbSNP:
5861422
gnomAD v2:
4:120243336 TA / T
gnomAD v3:
4:119322181 TA / T
gnomAD v4:
chr4-119322181-TA-T
Joint Max Group AF 0.6273046 (AMR)
Genomes Max Group AF 0.61123383 (EAS)
Exomes Max Group AF 0.64104369 (AMR)
MyVariant.info:
GRCh38 chr4:g.119322182del
GRCh37 chr4:g.120243337del
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119322182del , CM000666.2:g.119322182del GRCh38
NC_000004.11:g.120243337del , CM000666.1:g.120243337del GRCh37
NC_000004.10:g.120462785del NCBI36
NG_011444.1:g.4980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274024.3:c.-80del ENSP00000274024.3:n.-80del
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