Canonical Allele Identifier: CA1323320583
Gene: FASTKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767341C= , CM000664.2:g.206767341C= GRCh38
NC_000002.11:g.207632065C= , CM000664.1:g.207632065C= GRCh37
NC_000002.10:g.207340310C= NCBI36
NG_008984.1:g.6954C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.648C= MANE Select ENSP00000385990.3:p.Leu216=
ENST00000236980.10:c.648C= ENSP00000236980.6:p.Leu216=
ENST00000402774.7:c.648C= ENSP00000385990.3:p.Leu216=
ENST00000403094.3:c.648C= ENSP00000384929.3:p.Leu216=
ENST00000487777.5:n.706C=
NM_001136193.1:c.648C= NP_001129665.1:p.Leu216=
NM_001136194.1:c.648C= NP_001129666.1:p.Leu216=
NM_014929.3:c.648C= NP_055744.2:p.Leu216=
NM_001136193.2:c.648C= MANE Select NP_001129665.1:p.Leu216=
NM_001136194.2:c.648C= NP_001129666.1:p.Leu216=
NM_014929.4:c.648C= NP_055744.2:p.Leu216=