Canonical Allele Identifier: CA554157696

Gene: FABP2

Linked Data

• dbSNP Id: rs1371874284
• gnomAD v2: 4-120241856-TTAAA-T
• gnomAD v4: 4-119320701-TTAAA-T
• MyVariant Identifiers: chr4:g.120241857_120241860del (hg19) ; chr4:g.119320702_119320705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119320702_119320705del , CM000666.2:g.119320702_119320705del	GRCh38
NC_000004.11:g.120241857_120241860del , CM000666.1:g.120241857_120241860del	GRCh37
NC_000004.10:g.120461305_120461308del	NCBI36
NG_011444.1:g.6457_6460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274024.4:c.205_208del MANE Select	ENSP00000274024.3:p.Phe69IlefsTer4
ENST00000274024.3:c.205_208del	ENSP00000274024.3:p.Phe69IlefsTer4
NM_000134.3:c.205_208del	NP_000125.2:p.Phe69IlefsTer4
NM_000134.4:c.205_208del MANE Select	NP_000125.2:p.Phe69IlefsTer4