Canonical Allele Identifier: CA1241214
Gene: FMO2 HGNC NCBI
COSMIC:
COSM146682 (not active)
MyVariant.info:
GRCh38 chr1:g.171199445C>T
GRCh37 chr1:g.171168584C>T
Revel Score:
ENST00000209929 (MANE Select) 0.490
ENST00000441535 0.490
gnomAD v2:
1:171168584 C / T
gnomAD v3:
1:171199445 C / T
gnomAD v4:
chr1-171199445-C-T
Joint Max Group AF 0.52667338 (EAS)
Genomes Max Group AF 0.53211238 (EAS)
Exomes Max Group AF 0.52417664 (EAS)
dbSNP:
2020862
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171199445C>T , CM000663.2:g.171199445C>T GRCh38
NC_000001.10:g.171168584C>T , CM000663.1:g.171168584C>T GRCh37
NC_000001.9:g.169435208C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000209929.10:c.584C>T MANE Select ENSP00000209929.8:p.Ser195Leu
ENST00000209929.9:c.584C>T ENSP00000209929.8:p.Ser195Leu
ENST00000489354.3:n.349C>T
ENST00000529935.5:c.412+2634C>T ENSP00000487002.1:n.412+2634C>T
NM_001301347.1:c.-34+2634C>T NP_001288276.1:n.-34+2634C>T
NM_001460.4:c.584C>T NP_001451.2:p.Ser195Leu
XR_426768.2:n.701C>T
XR_921761.1:n.701C>T
XR_922278.1:n.508-31257G>A
NM_001365900.1:c.389C>T NP_001352829.1:p.Ser130Leu
NR_158622.1:n.604C>T
XR_001737072.2:n.651C>T
XR_001738291.2:n.1307-31257G>A
XR_921761.3:n.651C>T
XR_922278.3:n.1307-31257G>A
NM_001460.5:c.584C>T MANE Select NP_001451.2:p.Ser195Leu
NR_160266.1:n.512C>T
NM_001301347.2:c.-34+2634C>T NP_001288276.1:n.-34+2634C>T
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