Canonical Allele Identifier: CA431115081
Gene: FASTKD2 HGNC NCBI

Linked Data

gnomAD v4: 2-206767081-T-C
MyVariant Identifiers: chr2:g.207631805T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767081T>C , CM000664.2:g.206767081T>C GRCh38
NC_000002.11:g.207631805T>C , CM000664.1:g.207631805T>C GRCh37
NC_000002.10:g.207340050T>C NCBI36
NG_008984.1:g.6694T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402774.8:c.388T>C MANE Select ENSP00000385990.3:p.Leu130=
ENST00000236980.10:c.388T>C ENSP00000236980.6:p.Leu130=
ENST00000402774.7:c.388T>C ENSP00000385990.3:p.Leu130=
ENST00000403094.3:c.388T>C ENSP00000384929.3:p.Leu130=
ENST00000487777.5:n.446T>C
NM_001136193.1:c.388T>C NP_001129665.1:p.Leu130=
NM_001136194.1:c.388T>C NP_001129666.1:p.Leu130=
NM_014929.3:c.388T>C NP_055744.2:p.Leu130=
NM_001136193.2:c.388T>C MANE Select NP_001129665.1:p.Leu130=
NM_001136194.2:c.388T>C NP_001129666.1:p.Leu130=
NM_014929.4:c.388T>C NP_055744.2:p.Leu130=
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