Canonical Allele Identifier: CA16617418
Gene: FASTKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419835
ClinVar RCV Id: RCV000481369
dbSNP Id: rs1064794140
MyVariant Identifiers: chr2:g.207631895_207631898del (hg19) chr2:g.207631892_207631895del (hg19) chr2:g.206767171_206767174del (hg38) chr2:g.206767168_206767171del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767171_206767174del , CM000664.2:g.206767171_206767174del GRCh38
NC_000002.11:g.207631895_207631898del , CM000664.1:g.207631895_207631898del GRCh37
NC_000002.10:g.207340140_207340143del NCBI36
NG_008984.1:g.6784_6787del

Transcript Alleles

HGVS Amino-acid change
ENST00000402774.8:c.478_481del MANE Select ENSP00000385990.3:p.Ser160ArgfsTer6
ENST00000236980.10:c.478_481del ENSP00000236980.6:p.Ser160ArgfsTer6
ENST00000402774.7:c.478_481del ENSP00000385990.3:p.Ser160ArgfsTer6
ENST00000403094.3:c.478_481del ENSP00000384929.3:p.Ser160ArgfsTer6
ENST00000487777.5:n.536_539del
NM_001136193.1:c.478_481del NP_001129665.1:p.Ser160ArgfsTer6
NM_001136194.1:c.478_481del NP_001129666.1:p.Ser160ArgfsTer6
NM_014929.3:c.478_481del NP_055744.2:p.Ser160ArgfsTer6
NM_001136193.2:c.478_481del MANE Select NP_001129665.1:p.Ser160ArgfsTer6
NM_001136194.2:c.478_481del NP_001129666.1:p.Ser160ArgfsTer6
NM_014929.4:c.478_481del NP_055744.2:p.Ser160ArgfsTer6
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