Canonical Allele Identifier: CA3783221
Gene: FGD2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37021532C>A , CM000668.2:g.37021532C>A GRCh38
NC_000006.11:g.36989308C>A , CM000668.1:g.36989308C>A GRCh37
NC_000006.10:g.37097286C>A NCBI36
NG_051804.1:g.20886C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274963.13:c.1254C>A MANE Select ENSP00000274963.8:p.Asp418Glu
ENST00000274963.12:c.1254C>A ENSP00000274963.8:p.Asp418Glu
ENST00000373535.6:c.*686C>A ENSP00000362635.2:n.*686C>A
ENST00000464083.5:n.1634C>A
ENST00000493635.1:n.1253C>A
ENST00000494343.5:n.1311C>A
NM_173558.3:c.1254C>A NP_775829.2:p.Asp418Glu
XM_005248911.2:c.1254C>A XP_005248968.1:p.Asp418Glu
XM_005248912.2:c.654C>A XP_005248969.1:p.Asp218Glu
XM_005248913.2:c.654C>A XP_005248970.1:p.Asp218Glu
XM_005248914.2:c.420C>A XP_005248971.1:p.Asp140Glu
XM_006715016.2:c.753C>A XP_006715079.1:p.Asp251Glu
XM_011514371.1:c.654C>A XP_011512673.1:p.Asp218Glu
XM_011514374.1:c.138C>A XP_011512676.1:p.Asp46Glu
XM_017010429.2:c.1254C>A XP_016865918.1:p.Asp418Glu
XR_001743240.2:n.1417C>A
XR_001743241.2:n.1417C>A
XR_001743242.2:n.1417C>A
XR_001743243.1:n.1417C>A
XR_001743244.2:n.1249C>A
XR_001743245.2:n.1306C>A
XR_001743246.2:n.521C>A
XR_001743247.2:n.572C>A
XR_001743248.1:n.1417C>A
XR_001743249.2:n.566C>A
NM_173558.4:c.1254C>A MANE Select NP_775829.2:p.Asp418Glu