Canonical Allele Identifier: CA1477529
Community Standard Title: NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
Gene: FMN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.240330633G>T , CM000663.2:g.240330633G>T GRCh38
NC_000001.10:g.240493933G>T , CM000663.1:g.240493933G>T GRCh37
NC_000001.9:g.238560556G>T NCBI36
NG_042054.1:g.243749G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020066.5:c.4468G>T MANE Select NP_064450.3:p.Val1490Phe
ENST00000319653.14:c.4468G>T MANE Select ENSP00000318884.9:p.Val1490Phe
NM_001305424.1:c.4480G>T NP_001292353.1:p.Val1494Phe
NM_001305424.2:c.4480G>T NP_001292353.1:p.Val1494Phe
NM_001348094.1:c.2389G>T NP_001335023.1:p.Val797Phe
NM_001348094.2:c.2389G>T NP_001335023.1:p.Val797Phe
NM_020066.4:c.4468G>T NP_064450.3:p.Val1490Phe
ENST00000319653.13:c.4468G>T ENSP00000318884.9:p.Val1490Phe
ENST00000463398.5:n.528G>T
ENST00000545751.2:c.-103G>T ENSP00000437918.2:n.-103G>T
ENST00000545751.3:c.309G>T
ENST00000679390.1:n.730G>T
ENST00000679980.1:c.737G>T
ENST00000681131.1:c.395G>T
ENST00000681210.1:c.688G>T ENSP00000505131.1:p.Val230Phe
ENST00000681741.1:c.*512G>T ENSP00000505116.1:n.*512G>T
ENST00000681743.1:n.608G>T
ENST00000681805.1:c.353G>T
ENST00000681824.1:c.688G>T ENSP00000505818.1:p.Val230Phe
XM_017001840.2:c.2608G>T XP_016857329.1:p.Val870Phe
XM_017001841.2:c.2608G>T XP_016857330.1:p.Val870Phe