Canonical Allele Identifier: CA1477572

Gene: FMN2

Linked Data

• ClinVar Variation Id: 435231
• ClinVar RCV Id: RCV000499429 ; RCV000899884 ; RCV001264630 ; RCV001336476 ; RCV002527252 ; RCV003935288
• dbSNP Id: rs150801382
• ExAC: 1:240497221 C / T
• gnomAD v2: 1-240497221-C-T
• gnomAD v3: 1-240333921-C-T
• gnomAD v4: 1-240333921-C-T
• MyVariant Identifiers: chr1:g.240497221C>T (hg19) ; chr1:g.240333921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.240333921C>T , CM000663.2:g.240333921C>T	GRCh38
NC_000001.10:g.240497221C>T , CM000663.1:g.240497221C>T	GRCh37
NC_000001.9:g.238563844C>T	NCBI36
NG_042054.1:g.247037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319653.14:c.4619C>T MANE Select	ENSP00000318884.9:p.Ser1540Leu
ENST00000545751.3:c.460C>T
ENST00000679390.1:n.881C>T
ENST00000679980.1:c.888C>T
ENST00000681131.1:c.546C>T
ENST00000681210.1:c.839C>T	ENSP00000505131.1:p.Ser280Leu
ENST00000681296.1:n.1806C>T
ENST00000681741.1:c.*663C>T	ENSP00000505116.1:n.*663C>T
ENST00000681743.1:n.759C>T
ENST00000681805.1:c.504C>T
ENST00000681824.1:c.839C>T	ENSP00000505818.1:p.Ser280Leu
ENST00000319653.13:c.4619C>T	ENSP00000318884.9:p.Ser1540Leu
ENST00000545751.2:c.49C>T	ENSP00000437918.2:p.Arg17Cys
NM_001305424.1:c.4631C>T	NP_001292353.1:p.Ser1544Leu
NM_020066.4:c.4619C>T	NP_064450.3:p.Ser1540Leu
NM_001348094.1:c.2540C>T	NP_001335023.1:p.Ser847Leu
XM_017001840.2:c.2759C>T	XP_016857329.1:p.Ser920Leu
XM_017001841.2:c.2759C>T	XP_016857330.1:p.Ser920Leu
NM_020066.5:c.4619C>T MANE Select	NP_064450.3:p.Ser1540Leu
NM_001305424.2:c.4631C>T	NP_001292353.1:p.Ser1544Leu
NM_001348094.2:c.2540C>T	NP_001335023.1:p.Ser847Leu