Canonical Allele Identifier: CA3059802

Gene: FABP2

Linked Data

• ClinVar Variation Id: 2382384
• ClinVar RCV Id: RCV004217058
• dbSNP Id: rs201640311
• ExAC: 4:120241997 C / T
• gnomAD v2: 4-120241997-C-T
• gnomAD v3: 4-119320842-C-T
• gnomAD v4: 4-119320842-C-T
• MyVariant Identifiers: chr4:g.120241997C>T (hg19) ; chr4:g.119320842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119320842C>T , CM000666.2:g.119320842C>T	GRCh38
NC_000004.11:g.120241997C>T , CM000666.1:g.120241997C>T	GRCh37
NC_000004.10:g.120461445C>T	NCBI36
NG_011444.1:g.6320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274024.4:c.68G>A MANE Select	ENSP00000274024.3:p.Gly23Asp
ENST00000274024.3:c.68G>A	ENSP00000274024.3:p.Gly23Asp
NM_000134.3:c.68G>A	NP_000125.2:p.Gly23Asp
NM_000134.4:c.68G>A MANE Select	NP_000125.2:p.Gly23Asp