Canonical Allele Identifier: CA248862

Gene: FMN2

Linked Data

• ClinVar Variation Id: 218764
• ClinVar RCV Id: RCV000202660
• dbSNP Id: rs199628038
• ExAC: 1:240370940 C / T
• gnomAD v2: 1-240370940-C-T
• gnomAD v3: 1-240207640-C-T
• gnomAD v4: 1-240207640-C-T
• MyVariant Identifiers: chr1:g.240370940C>T (hg19) ; chr1:g.240207640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.240207640C>T , CM000663.2:g.240207640C>T	GRCh38
NC_000001.10:g.240370940C>T , CM000663.1:g.240370940C>T	GRCh37
NC_000001.9:g.238437563C>T	NCBI36
NG_042054.1:g.120756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319653.14:c.2828C>T MANE Select	ENSP00000318884.9:p.Pro943Leu
ENST00000545751.3:c.56+19378C>T
ENST00000679980.1:c.189+648C>T
ENST00000681210.1:c.285+19378C>T	ENSP00000505131.1:n.285+19378C>T
ENST00000681741.1:c.286-3451C>T	ENSP00000505116.1:n.286-3451C>T
ENST00000681824.1:c.285+19378C>T	ENSP00000505818.1:n.285+19378C>T
ENST00000319653.13:c.2828C>T	ENSP00000318884.9:p.Pro943Leu
NM_001305424.1:c.2840C>T	NP_001292353.1:p.Pro947Leu
NM_020066.4:c.2828C>T	NP_064450.3:p.Pro943Leu
XM_011544237.1:c.2840C>T	XP_011542539.1:p.Pro947Leu
XR_949151.1:n.3061C>T
NM_001348094.1:c.1986+19378C>T	NP_001335023.1:n.1986+19378C>T
XM_011544237.3:c.2840C>T	XP_011542539.1:p.Pro947Leu
XM_017001837.1:c.2840C>T	XP_016857326.1:p.Pro947Leu
XM_017001838.1:c.2840C>T	XP_016857327.1:p.Pro947Leu
XM_017001840.2:c.968C>T	XP_016857329.1:p.Pro323Leu
XM_017001841.2:c.968C>T	XP_016857330.1:p.Pro323Leu
NM_020066.5:c.2828C>T MANE Select	NP_064450.3:p.Pro943Leu
NM_001305424.2:c.2840C>T	NP_001292353.1:p.Pro947Leu
NM_001348094.2:c.1986+19378C>T	NP_001335023.1:n.1986+19378C>T