Canonical Allele Identifier: CA413357843

Gene: FGD1 TSR2

Linked Data

• MyVariant Identifiers: chrX:g.54472621T>G (hg19) ; chrX:g.54446188T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54446188T>G , CM000685.2:g.54446188T>G	GRCh38
NC_000023.10:g.54472621T>G , CM000685.1:g.54472621T>G	GRCh37
NC_000023.9:g.54489346T>G	NCBI36
NG_008054.1:g.54979A>C
NG_051993.1:g.10814T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375135.4:c.2807A>C (FGD1) MANE Select	ENSP00000364277.3:p.Glu936Ala
ENST00000375151.5:c.*1638T>G (TSR2) MANE Select	ENSP00000364293.4:n.*1638T>G
ENST00000375135.3:c.2807A>C (FGD1)	ENSP00000364277.3:p.Glu936Ala
NM_004463.2:c.2807A>C (FGD1)	NP_004454.2:p.Glu936Ala
NM_001346789.1:c.*1638T>G (TSR2)	NP_001333718.1:n.*1638T>G
NM_001346790.1:c.*1638T>G (TSR2)	NP_001333719.1:n.*1638T>G
NM_001346791.1:c.*1638T>G (TSR2)	NP_001333720.1:n.*1638T>G
NM_001346792.1:c.*1638T>G (TSR2)	NP_001333721.1:n.*1638T>G
NM_058163.2:c.*1638T>G (TSR2)	NP_477511.1:n.*1638T>G
NM_004463.3:c.2807A>C (FGD1) MANE Select	NP_004454.2:p.Glu936Ala
NM_058163.3:c.*1638T>G (TSR2) MANE Select	NP_477511.1:n.*1638T>G
NM_001346789.2:c.*1638T>G (TSR2)	NP_001333718.1:n.*1638T>G
NM_001346790.2:c.*1638T>G (TSR2)	NP_001333719.1:n.*1638T>G
NM_001346791.2:c.*1638T>G (TSR2)	NP_001333720.1:n.*1638T>G
NM_001346792.2:c.*1638T>G (TSR2)	NP_001333721.1:n.*1638T>G