Canonical Allele Identifier: CA2639770
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs755018932
ExAC: 3:138665120 T / G
gnomAD v2: 3-138665120-T-G
gnomAD v4: 3-138946278-T-G
MyVariant Identifiers: chr3:g.138665120T>G (hg19) chr3:g.138665120_138665121delinsGG (hg19) chr3:g.138946278T>G (hg38) chr3:g.138946278_138946279delinsGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946278T>G , CM000665.2:g.138946278T>G GRCh38
NC_000003.11:g.138665120T>G , CM000665.1:g.138665120T>G GRCh37
NC_000003.10:g.140147810T>G NCBI36
NG_012454.1:g.5863A>C
NG_029796.1:g.4045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.445A>C MANE Select ENSP00000497217.1:p.Met149Leu
ENST00000330315.3:c.445A>C ENSP00000333188.3:p.Met149Leu
NM_023067.3:c.445A>C NP_075555.1:p.Met149Leu
NM_023067.4:c.445A>C MANE Select NP_075555.1:p.Met149Leu
Search 100 bp 5'
Search 100 bp 3'