Canonical Allele Identifier: CA7278189
Gene: FLVCR2 HGNC NCBI
FLVCR2-AS1 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'