Canonical Allele Identifier: CA11788376
Gene: FABP2 HGNC NCBI
dbSNP:
11724758
gnomAD v2:
4:120239878 G / A
gnomAD v3:
4:119318723 G / A
gnomAD v4:
chr4-119318723-G-A
Joint Max Group AF 0.53552674 (AFR)
Genomes Max Group AF 0.53632089 (AFR)
Exomes Max Group AF 0.48523305 (AFR)
MyVariant.info:
GRCh38 chr4:g.119318723G>A
GRCh37 chr4:g.120239878G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119318723G>A , CM000666.2:g.119318723G>A GRCh38
NC_000004.11:g.120239878G>A , CM000666.1:g.120239878G>A GRCh37
NC_000004.10:g.120459326G>A NCBI36
NG_011444.1:g.8439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274024.4:c.*318C>T MANE Select ENSP00000274024.3:n.*318C>T
ENST00000274024.3:c.*318C>T ENSP00000274024.3:n.*318C>T
NM_000134.3:c.*318C>T NP_000125.2:n.*318C>T
NM_000134.4:c.*318C>T MANE Select NP_000125.2:n.*318C>T
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