Canonical Allele Identifier: CA7278189

Gene: FLVCR2 FLVCR2-AS1

Linked Data

• ClinVar Variation Id: 314410
• ClinVar RCV Id: RCV000320971 ; RCV002522332
• dbSNP Id: rs199805789
• ExAC: 14:76045601 A / G
• gnomAD v2: 14-76045601-A-G
• gnomAD v3: 14-75579258-A-G
• gnomAD v4: 14-75579258-A-G
• MyVariant Identifiers: chr14:g.76045601A>G (hg19) ; chr14:g.75579258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75579258A>G , CM000676.2:g.75579258A>G	GRCh38
NC_000014.8:g.76045601A>G , CM000676.1:g.76045601A>G	GRCh37
NC_000014.7:g.75115354A>G	NCBI36
NG_027694.1:g.5662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.286A>G (FLVCR2) MANE Select	ENSP00000238667.4:p.Met96Val
ENST00000238667.8:c.286A>G (FLVCR2)	ENSP00000238667.4:p.Met96Val
NM_017791.2:c.286A>G (FLVCR2)	NP_060261.2:p.Met96Val
NR_110552.1:n.331T>C (FLVCR2-AS1)
NM_017791.3:c.286A>G (FLVCR2) MANE Select	NP_060261.2:p.Met96Val