Canonical Allele Identifier: CA539388790
Gene: FASTKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1559358097
gnomAD v2: 2-207631919-GA-G
gnomAD v3: 2-206767195-GA-G
gnomAD v4: 2-206767195-GA-G
MyVariant Identifiers: chr2:g.207631920del (hg19) chr2:g.206767196del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767196del , CM000664.2:g.206767196del GRCh38
NC_000002.11:g.207631920del , CM000664.1:g.207631920del GRCh37
NC_000002.10:g.207340165del NCBI36
NG_008984.1:g.6809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.503del MANE Select ENSP00000385990.3:p.Asp168ValfsTer3
ENST00000236980.10:c.503del ENSP00000236980.6:p.Asp168ValfsTer3
ENST00000402774.7:c.503del ENSP00000385990.3:p.Asp168ValfsTer3
ENST00000403094.3:c.503del ENSP00000384929.3:p.Asp168ValfsTer3
ENST00000487777.5:n.561del
NM_001136193.1:c.503del NP_001129665.1:p.Asp168ValfsTer3
NM_001136194.1:c.503del NP_001129666.1:p.Asp168ValfsTer3
NM_014929.3:c.503del NP_055744.2:p.Asp168ValfsTer3
NM_001136193.2:c.503del MANE Select NP_001129665.1:p.Asp168ValfsTer3
NM_001136194.2:c.503del NP_001129666.1:p.Asp168ValfsTer3
NM_014929.4:c.503del NP_055744.2:p.Asp168ValfsTer3
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