Canonical Allele Identifier: CA350071208
Gene: FASTKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767168C>A , CM000664.2:g.206767168C>A GRCh38
NC_000002.11:g.207631892C>A , CM000664.1:g.207631892C>A GRCh37
NC_000002.10:g.207340137C>A NCBI36
NG_008984.1:g.6781C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.475C>A MANE Select ENSP00000385990.3:p.Leu159Met
ENST00000236980.10:c.475C>A ENSP00000236980.6:p.Leu159Met
ENST00000402774.7:c.475C>A ENSP00000385990.3:p.Leu159Met
ENST00000403094.3:c.475C>A ENSP00000384929.3:p.Leu159Met
ENST00000487777.5:n.533C>A
NM_001136193.1:c.475C>A NP_001129665.1:p.Leu159Met
NM_001136194.1:c.475C>A NP_001129666.1:p.Leu159Met
NM_014929.3:c.475C>A NP_055744.2:p.Leu159Met
NM_001136193.2:c.475C>A MANE Select NP_001129665.1:p.Leu159Met
NM_001136194.2:c.475C>A NP_001129666.1:p.Leu159Met
NM_014929.4:c.475C>A NP_055744.2:p.Leu159Met