Canonical Allele Identifier: CA11854559
Gene: FABP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1269485
ClinVar RCV Id: RCV001681118
dbSNP Id: rs12506610
gnomAD v2: 4-120241659-T-C
gnomAD v3: 4-119320504-T-C
gnomAD v4: 4-119320504-T-C
MyVariant Identifiers: chr4:g.120241659T>C (hg19) chr4:g.119320504T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119320504T>C , CM000666.2:g.119320504T>C GRCh38
NC_000004.11:g.120241659T>C , CM000666.1:g.120241659T>C GRCh37
NC_000004.10:g.120461107T>C NCBI36
NG_011444.1:g.6658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274024.4:c.240+166A>G MANE Select ENSP00000274024.3:n.240+166A>G
ENST00000274024.3:c.240+166A>G ENSP00000274024.3:n.240+166A>G
NM_000134.3:c.240+166A>G NP_000125.2:n.240+166A>G
NM_000134.4:c.240+166A>G MANE Select NP_000125.2:n.240+166A>G
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