Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA390447237

Gene: FLVCR2 HGNC NCBI
FLVCR2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs138495705

gnomAD v4: 14-75579445-C-G

MyVariant Identifiers: chr14:g.76045788C>G (hg19) chr14:g.75579445C>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75579445C>G , CM000676.2:g.75579445C>G	GRCh38
NC_000014.8:g.76045788C>G , CM000676.1:g.76045788C>G	GRCh37
NC_000014.7:g.75115541C>G	NCBI36
NG_027694.1:g.5849C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000238667.9:c.473C>G (FLVCR2) MANE Select	ENSP00000238667.4:p.Ser158Trp
ENST00000238667.8:c.473C>G (FLVCR2)	ENSP00000238667.4:p.Ser158Trp
NM_017791.2:c.473C>G (FLVCR2)	NP_060261.2:p.Ser158Trp
NR_110552.1:n.144G>C (FLVCR2-AS1)
NM_017791.3:c.473C>G (FLVCR2) MANE Select	NP_060261.2:p.Ser158Trp

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