Canonical Allele Identifier: CA413358026
Gene: FGD1 HGNC NCBI
TSR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426885
ClinVar RCV Id: RCV000490039
dbSNP Id: rs1085307841
MyVariant Identifiers: chrX:g.54472709C>A (hg19) chrX:g.54446276C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54446276C>A , CM000685.2:g.54446276C>A GRCh38
NC_000023.10:g.54472709C>A , CM000685.1:g.54472709C>A GRCh37
NC_000023.9:g.54489434C>A NCBI36
NG_008054.1:g.54891G>T
NG_051993.1:g.10902C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375135.4:c.2719G>T (FGD1) MANE Select ENSP00000364277.3:p.Glu907Ter
ENST00000375151.5:c.*1726C>A (TSR2) MANE Select ENSP00000364293.4:n.*1726C>A
ENST00000375135.3:c.2719G>T (FGD1) ENSP00000364277.3:p.Glu907Ter
NM_004463.2:c.2719G>T (FGD1) NP_004454.2:p.Glu907Ter
NM_001346789.1:c.*1726C>A (TSR2) NP_001333718.1:n.*1726C>A
NM_001346790.1:c.*1726C>A (TSR2) NP_001333719.1:n.*1726C>A
NM_001346791.1:c.*1726C>A (TSR2) NP_001333720.1:n.*1726C>A
NM_001346792.1:c.*1726C>A (TSR2) NP_001333721.1:n.*1726C>A
NM_058163.2:c.*1726C>A (TSR2) NP_477511.1:n.*1726C>A
NM_004463.3:c.2719G>T (FGD1) MANE Select NP_004454.2:p.Glu907Ter
NM_058163.3:c.*1726C>A (TSR2) MANE Select NP_477511.1:n.*1726C>A
NM_001346789.2:c.*1726C>A (TSR2) NP_001333718.1:n.*1726C>A
NM_001346790.2:c.*1726C>A (TSR2) NP_001333719.1:n.*1726C>A
NM_001346791.2:c.*1726C>A (TSR2) NP_001333720.1:n.*1726C>A
NM_001346792.2:c.*1726C>A (TSR2) NP_001333721.1:n.*1726C>A
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