Canonical Allele Identifier: CA148901

Gene: FLVCR2 FLVCR2-AS1

Linked Data

• ClinVar Variation Id: 95819
• ClinVar RCV Id: RCV000081865 ; RCV000373082 ; RCV001711250 ; RCV001701742
• dbSNP Id: rs2287016
• ExAC: 14:76045858 G / A
• gnomAD v2: 14-76045858-G-A
• gnomAD v3: 14-75579515-G-A
• gnomAD v4: 14-75579515-G-A
• MyVariant Identifiers: chr14:g.76045858G>A (hg19) ; chr14:g.75579515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75579515G>A , CM000676.2:g.75579515G>A	GRCh38
NC_000014.8:g.76045858G>A , CM000676.1:g.76045858G>A	GRCh37
NC_000014.7:g.75115611G>A	NCBI36
NG_027694.1:g.5919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.543G>A (FLVCR2) MANE Select	ENSP00000238667.4:p.Val181=
ENST00000238667.8:c.543G>A (FLVCR2)	ENSP00000238667.4:p.Val181=
ENST00000554496.1:n.60G>A (FLVCR2)
NM_017791.2:c.543G>A (FLVCR2)	NP_060261.2:p.Val181=
NR_110552.1:n.74C>T (FLVCR2-AS1)
NM_017791.3:c.543G>A (FLVCR2) MANE Select	NP_060261.2:p.Val181=