Canonical Allele Identifier: CA324312
Gene: FASTKD2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.206771211T>C
GRCh37 chr2:g.207635935T>C
Revel Score:
ENST00000236980 0.358
ENST00000402774 (MANE Select) 0.358
ENST00000403094 0.358
gnomAD v2:
2:207635935 T / C
gnomAD v3:
2:206771211 T / C
gnomAD v4:
chr2-206771211-T-C
Joint Max Group AF 0.00402258 (EAS)
Genomes Max Group AF 0.00303566 (EAS)
Exomes Max Group AF 0.00400301 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206771211T>C , CM000664.2:g.206771211T>C GRCh38
NC_000002.11:g.207635935T>C , CM000664.1:g.207635935T>C GRCh37
NC_000002.10:g.207344180T>C NCBI36
NG_008984.1:g.10824T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.911T>C MANE Select ENSP00000385990.3:p.Ile304Thr
ENST00000236980.10:c.911T>C ENSP00000236980.6:p.Ile304Thr
ENST00000402774.7:c.911T>C ENSP00000385990.3:p.Ile304Thr
ENST00000403094.3:c.911T>C ENSP00000384929.3:p.Ile304Thr
ENST00000487777.5:n.969T>C
NM_001136193.1:c.911T>C NP_001129665.1:p.Ile304Thr
NM_001136194.1:c.911T>C NP_001129666.1:p.Ile304Thr
NM_014929.3:c.911T>C NP_055744.2:p.Ile304Thr
NM_001136193.2:c.911T>C MANE Select NP_001129665.1:p.Ile304Thr
NM_001136194.2:c.911T>C NP_001129666.1:p.Ile304Thr
NM_014929.4:c.911T>C NP_055744.2:p.Ile304Thr
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