Canonical Allele Identifier: CA10641012

Gene: FLVCR2 TTLL5

Linked Data

• ClinVar Variation Id: 314435
• ClinVar RCV Id: RCV000346913
• dbSNP Id: rs552943781
• gnomAD v2: 14-76114448-A-C
• gnomAD v3: 14-75648105-A-C
• gnomAD v4: 14-75648105-A-C
• MyVariant Identifiers: chr14:g.76114448A>C (hg19) ; chr14:g.75648105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75648105A>C , CM000676.2:g.75648105A>C	GRCh38
NC_000014.8:g.76114448A>C , CM000676.1:g.76114448A>C	GRCh37
NC_000014.7:g.75184201A>C	NCBI36
NG_027694.1:g.74509A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.*1633A>C (FLVCR2) MANE Select	ENSP00000238667.4:n.*1633A>C
ENST00000238667.8:c.*1633A>C (FLVCR2)	ENSP00000238667.4:n.*1633A>C
ENST00000553587.5:c.368+13092A>C (FLVCR2)	ENSP00000451603.1:n.368+13092A>C
ENST00000554132.1:n.72+14409A>C (TTLL5)
ENST00000555385.1:n.59-14950A>C (FLVCR2)
ENST00000556241.5:n.408+13092A>C (FLVCR2)
ENST00000556265.5:n.176+13092A>C (TTLL5)
NM_001195283.1:c.*1633A>C (FLVCR2)	NP_001182212.1:n.*1633A>C
NM_017791.2:c.*1633A>C (FLVCR2)	NP_060261.2:n.*1633A>C
NM_017791.3:c.*1633A>C (FLVCR2) MANE Select	NP_060261.2:n.*1633A>C
NM_001195283.2:c.*1633A>C (FLVCR2)	NP_001182212.1:n.*1633A>C