Canonical Allele Identifier: CA350073128
Gene: FASTKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767382A>G , CM000664.2:g.206767382A>G GRCh38
NC_000002.11:g.207632106A>G , CM000664.1:g.207632106A>G GRCh37
NC_000002.10:g.207340351A>G NCBI36
NG_008984.1:g.6995A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.689A>G MANE Select ENSP00000385990.3:p.Lys230Arg
ENST00000236980.10:c.689A>G ENSP00000236980.6:p.Lys230Arg
ENST00000402774.7:c.689A>G ENSP00000385990.3:p.Lys230Arg
ENST00000403094.3:c.689A>G ENSP00000384929.3:p.Lys230Arg
ENST00000487777.5:n.747A>G
NM_001136193.1:c.689A>G NP_001129665.1:p.Lys230Arg
NM_001136194.1:c.689A>G NP_001129666.1:p.Lys230Arg
NM_014929.3:c.689A>G NP_055744.2:p.Lys230Arg
NM_001136193.2:c.689A>G MANE Select NP_001129665.1:p.Lys230Arg
NM_001136194.2:c.689A>G NP_001129666.1:p.Lys230Arg
NM_014929.4:c.689A>G NP_055744.2:p.Lys230Arg