Canonical Allele Identifier: CA358026638

Gene: FABP2

Linked Data

• dbSNP Id: rs769786920
• gnomAD v2: 4-120241826-C-T
• gnomAD v4: 4-119320671-C-T
• MyVariant Identifiers: chr4:g.120241826C>T (hg19) ; chr4:g.119320671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119320671C>T , CM000666.2:g.119320671C>T	GRCh38
NC_000004.11:g.120241826C>T , CM000666.1:g.120241826C>T	GRCh37
NC_000004.10:g.120461274C>T	NCBI36
NG_011444.1:g.6491G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274024.4:c.239G>A MANE Select	ENSP00000274024.3:p.Arg80Lys
ENST00000274024.3:c.239G>A	ENSP00000274024.3:p.Arg80Lys
NM_000134.3:c.239G>A	NP_000125.2:p.Arg80Lys
NM_000134.4:c.239G>A MANE Select	NP_000125.2:p.Arg80Lys