Canonical Allele Identifier: CA372624049

Gene: FBXL6 SLC52A2

Linked Data

• dbSNP Id: rs1818568029
• gnomAD v4: 8-144358302-A-G
• MyVariant Identifiers: chr8:g.145581962A>G (hg19) ; chr8:g.144358302A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144358302A>G , CM000670.2:g.144358302A>G	GRCh38
NC_000008.10:g.145581962A>G , CM000670.1:g.145581962A>G	GRCh37
NC_000008.9:g.145552770A>G	NCBI36
NG_032872.1:g.4746A>G
NG_032872.2:g.4746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331890.6:c.146T>C (FBXL6) MANE Select	ENSP00000330098.5:p.Leu49Pro
ENST00000532815.2:c.-111+700A>G (SLC52A2)	ENSP00000501933.1:n.-111+700A>G
ENST00000675292.1:c.-110-882A>G (SLC52A2)	ENSP00000502652.1:n.-110-882A>G
ENST00000675888.1:c.-110-882A>G (SLC52A2)	ENSP00000502294.1:n.-110-882A>G
ENST00000331890.5:c.146T>C (FBXL6)	ENSP00000330098.5:p.Leu49Pro
ENST00000455319.6:c.146T>C (FBXL6)	ENSP00000403873.2:p.Leu49Pro
ENST00000524541.5:c.-110-882A>G (SLC52A2)	ENSP00000434239.1:n.-110-882A>G
ENST00000530142.5:n.972T>C (FBXL6)
ENST00000532815.1:n.399+700A>G (SLC52A2)
NM_012162.3:c.146T>C (FBXL6)	NP_036294.2:p.Leu49Pro
NM_024555.5:c.146T>C (FBXL6)	NP_078831.4:p.Leu49Pro
NM_012162.4:c.146T>C (FBXL6) MANE Select	NP_036294.2:p.Leu49Pro
NM_024555.6:c.146T>C (FBXL6)	NP_078831.4:p.Leu49Pro