Canonical Allele Identifier: CA4938003
Gene: FBXL6 HGNC NCBI
SLC52A2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.144358204T>C
GRCh37 chr8:g.145581864T>C
Revel Score:
ENST00000455319 0.020
ENST00000331890 (MANE Select) 0.020
gnomAD v2:
8:145581864 T / C
gnomAD v3:
8:144358204 T / C
gnomAD v4:
chr8-144358204-T-C
Joint Max Group AF 0.00209972 (MID)
Genomes Max Group AF 0.00139308 (AFR)
Exomes Max Group AF 0.00224962 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144358204T>C , CM000670.2:g.144358204T>C GRCh38
NC_000008.10:g.145581864T>C , CM000670.1:g.145581864T>C GRCh37
NC_000008.9:g.145552672T>C NCBI36
NG_032872.1:g.4648T>C
NG_032872.2:g.4648T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331890.6:c.244A>G (FBXL6) MANE Select ENSP00000330098.5:p.Lys82Glu
ENST00000532815.2:c.-111+602T>C (SLC52A2) ENSP00000501933.1:n.-111+602T>C
ENST00000675292.1:c.-110-980T>C (SLC52A2) ENSP00000502652.1:n.-110-980T>C
ENST00000675888.1:c.-110-980T>C (SLC52A2) ENSP00000502294.1:n.-110-980T>C
ENST00000331890.5:c.244A>G (FBXL6) ENSP00000330098.5:p.Lys82Glu
ENST00000455319.6:c.244A>G (FBXL6) ENSP00000403873.2:p.Lys82Glu
ENST00000524541.5:c.-110-980T>C (SLC52A2) ENSP00000434239.1:n.-110-980T>C
ENST00000530142.5:n.1070A>G (FBXL6)
ENST00000532815.1:n.399+602T>C (SLC52A2)
NM_012162.3:c.244A>G (FBXL6) NP_036294.2:p.Lys82Glu
NM_024555.5:c.244A>G (FBXL6) NP_078831.4:p.Lys82Glu
NM_012162.4:c.244A>G (FBXL6) MANE Select NP_036294.2:p.Lys82Glu
NM_024555.6:c.244A>G (FBXL6) NP_078831.4:p.Lys82Glu
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