Canonical Allele Identifier: CA345435245
Community Standard Title: NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu)
Gene: FMN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.240207943C>T , CM000663.2:g.240207943C>T GRCh38
NC_000001.10:g.240371243C>T , CM000663.1:g.240371243C>T GRCh37
NC_000001.9:g.238437866C>T NCBI36
NG_042054.1:g.121059C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020066.5:c.3131C>T MANE Select NP_064450.3:p.Pro1044Leu
ENST00000319653.14:c.3131C>T MANE Select ENSP00000318884.9:p.Pro1044Leu
NM_001305424.1:c.3143C>T NP_001292353.1:p.Pro1048Leu
NM_001305424.2:c.3143C>T NP_001292353.1:p.Pro1048Leu
NM_001348094.1:c.1986+19681C>T NP_001335023.1:n.1986+19681C>T
NM_001348094.2:c.1986+19681C>T NP_001335023.1:n.1986+19681C>T
NM_020066.4:c.3131C>T NP_064450.3:p.Pro1044Leu
ENST00000319653.13:c.3131C>T ENSP00000318884.9:p.Pro1044Leu
ENST00000545751.3:c.56+19681C>T
ENST00000679980.1:c.189+951C>T
ENST00000681210.1:c.285+19681C>T ENSP00000505131.1:n.285+19681C>T
ENST00000681741.1:c.286-3148C>T ENSP00000505116.1:n.286-3148C>T
ENST00000681824.1:c.285+19681C>T ENSP00000505818.1:n.285+19681C>T
XM_011544237.1:c.3143C>T XP_011542539.1:p.Pro1048Leu
XM_011544237.3:c.3143C>T XP_011542539.1:p.Pro1048Leu
XM_017001837.1:c.3143C>T XP_016857326.1:p.Pro1048Leu
XM_017001838.1:c.3143C>T XP_016857327.1:p.Pro1048Leu
XM_017001840.2:c.1271C>T XP_016857329.1:p.Pro424Leu
XM_017001841.2:c.1271C>T XP_016857330.1:p.Pro424Leu
XR_949151.1:n.3364C>T