Canonical Allele Identifier: CA10646165
Gene: FLVCR2 HGNC NCBI
FLVCR2-AS1 HGNC NCBI
ClinVar RCV:
RCV000332196
RCV001546865
ClinVar Variation:
314405
dbSNP:
80001297
gnomAD v2:
14:76045205 T / C
gnomAD v3:
14:75578862 T / C
gnomAD v4:
chr14-75578862-T-C
Joint Max Group AF 0.01843776 (AFR)
Genomes Max Group AF 0.01821461 (AFR)
Exomes Max Group AF 0.01782948 (AFR)
MyVariant.info:
GRCh38 chr14:g.75578862T>C
GRCh37 chr14:g.76045205T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75578862T>C , CM000676.2:g.75578862T>C GRCh38
NC_000014.8:g.76045205T>C , CM000676.1:g.76045205T>C GRCh37
NC_000014.7:g.75114958T>C NCBI36
NG_027694.1:g.5266T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000238667.9:c.-111T>C (FLVCR2) MANE Select ENSP00000238667.4:n.-111T>C
ENST00000238667.8:c.-111T>C (FLVCR2) ENSP00000238667.4:n.-111T>C
NM_017791.2:c.-111T>C (FLVCR2) NP_060261.2:n.-111T>C
NR_110552.1:n.727A>G (FLVCR2-AS1)
NM_017791.3:c.-111T>C (FLVCR2) MANE Select NP_060261.2:n.-111T>C
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