Canonical Allele Identifier: CA126561
Gene: FABP2 HGNC NCBI
COSMIC:
COSM4771472 (not active)
MyVariant.info:
GRCh38 chr4:g.119320747T>C
GRCh37 chr4:g.120241902T>C
Revel Score:
ENST00000274024 (MANE Select) 0.072
gnomAD v2:
4:120241902 T / C
gnomAD v3:
4:119320747 T / C
gnomAD v4:
chr4-119320747-T-C
Joint Max Group AF 0.76284741 (AFR)
Genomes Max Group AF 0.76354997 (AFR)
Exomes Max Group AF 0.757049 (AFR)
ClinVar RCV:
RCV000017958
RCV001650835
ClinVar Variation:
16494
dbSNP:
1799883
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119320747T>C , CM000666.2:g.119320747T>C GRCh38
NC_000004.11:g.120241902T>C , CM000666.1:g.120241902T>C GRCh37
NC_000004.10:g.120461350T>C NCBI36
NG_011444.1:g.6415A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274024.4:c.163A>G MANE Select ENSP00000274024.3:p.Thr55Ala
ENST00000274024.3:c.163A>G ENSP00000274024.3:p.Thr55Ala
NM_000134.3:c.163A>G NP_000125.2:p.Thr55Ala
NM_000134.4:c.163A>G MANE Select NP_000125.2:p.Thr55Ala
Search 100 bp 5'
Search 100 bp 3'