Canonical Allele Identifier: CA372623711

Gene: FBXL6 SLC52A2

Linked Data

• ClinVar Variation Id: 2335696
• ClinVar RCV Id: RCV004173440
• dbSNP Id: rs1554853422
• gnomAD v2: 8-145581858-C-T
• gnomAD v3: 8-144358198-C-T
• gnomAD v4: 8-144358198-C-T
• MyVariant Identifiers: chr8:g.145581858C>T (hg19) ; chr8:g.144358198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144358198C>T , CM000670.2:g.144358198C>T	GRCh38
NC_000008.10:g.145581858C>T , CM000670.1:g.145581858C>T	GRCh37
NC_000008.9:g.145552666C>T	NCBI36
NG_032872.1:g.4642C>T
NG_032872.2:g.4642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331890.6:c.250G>A (FBXL6) MANE Select	ENSP00000330098.5:p.Gly84Arg
ENST00000532815.2:c.-111+596C>T (SLC52A2)	ENSP00000501933.1:n.-111+596C>T
ENST00000675292.1:c.-110-986C>T (SLC52A2)	ENSP00000502652.1:n.-110-986C>T
ENST00000675888.1:c.-110-986C>T (SLC52A2)	ENSP00000502294.1:n.-110-986C>T
ENST00000331890.5:c.250G>A (FBXL6)	ENSP00000330098.5:p.Gly84Arg
ENST00000455319.6:c.250G>A (FBXL6)	ENSP00000403873.2:p.Gly84Arg
ENST00000524541.5:c.-110-986C>T (SLC52A2)	ENSP00000434239.1:n.-110-986C>T
ENST00000530142.5:n.1076G>A (FBXL6)
ENST00000532815.1:n.399+596C>T (SLC52A2)
NM_012162.3:c.250G>A (FBXL6)	NP_036294.2:p.Gly84Arg
NM_024555.5:c.250G>A (FBXL6)	NP_078831.4:p.Gly84Arg
NM_012162.4:c.250G>A (FBXL6) MANE Select	NP_036294.2:p.Gly84Arg
NM_024555.6:c.250G>A (FBXL6)	NP_078831.4:p.Gly84Arg