Canonical Allele Identifier: CA3059787

Gene: FABP2

Linked Data

• dbSNP Id: rs780659556
• ExAC: 4:120241913 TTGAC / T
• gnomAD v2: 4-120241913-TTGAC-T
• gnomAD v3: 4-119320758-TTGAC-T
• gnomAD v4: 4-119320758-TTGAC-T
• COSMIC: COSM1050469
• MyVariant Identifiers: chr4:g.120241914_120241917del (hg19) ; chr4:g.119320759_119320762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119320761_119320764del , CM000666.2:g.119320761_119320764del	GRCh38
NC_000004.11:g.120241916_120241919del , CM000666.1:g.120241916_120241919del	GRCh37
NC_000004.10:g.120461364_120461367del	NCBI36
NG_011444.1:g.6400_6403del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274024.4:c.148_151del MANE Select	ENSP00000274024.3:p.Val50LysfsTer23
ENST00000274024.3:c.148_151del	ENSP00000274024.3:p.Val50LysfsTer23
NM_000134.3:c.148_151del	NP_000125.2:p.Val50LysfsTer23
NM_000134.4:c.148_151del MANE Select	NP_000125.2:p.Val50LysfsTer23