Canonical Allele Identifier: CA148899

Gene: FLVCR2 FLVCR2-AS1

Linked Data

• ClinVar Variation Id: 95818
• ClinVar RCV Id: RCV000081864 ; RCV000326404 ; RCV001701741 ; RCV001682783
• dbSNP Id: rs2287015
• ExAC: 14:76045362 T / C
• gnomAD v2: 14-76045362-T-C
• gnomAD v3: 14-75579019-T-C
• gnomAD v4: 14-75579019-T-C
• MyVariant Identifiers: chr14:g.76045362T>C (hg19) ; chr14:g.75579019T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75579019T>C , CM000676.2:g.75579019T>C	GRCh38
NC_000014.8:g.76045362T>C , CM000676.1:g.76045362T>C	GRCh37
NC_000014.7:g.75115115T>C	NCBI36
NG_027694.1:g.5423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.47T>C (FLVCR2) MANE Select	ENSP00000238667.4:p.Val16Ala
ENST00000238667.8:c.47T>C (FLVCR2)	ENSP00000238667.4:p.Val16Ala
NM_017791.2:c.47T>C (FLVCR2)	NP_060261.2:p.Val16Ala
NR_110552.1:n.570A>G (FLVCR2-AS1)
NM_017791.3:c.47T>C (FLVCR2) MANE Select	NP_060261.2:p.Val16Ala