Canonical Allele Identifier: CA10646190

Gene: FLVCR2 TTLL5

Linked Data

• ClinVar Variation Id: 314423
• ClinVar RCV Id: RCV000322740 ; RCV001538155
• dbSNP Id: rs75002047
• gnomAD v2: 14-76113002-T-C
• gnomAD v3: 14-75646659-T-C
• gnomAD v4: 14-75646659-T-C
• MyVariant Identifiers: chr14:g.76113002T>C (hg19) ; chr14:g.75646659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75646659T>C , CM000676.2:g.75646659T>C	GRCh38
NC_000014.8:g.76113002T>C , CM000676.1:g.76113002T>C	GRCh37
NC_000014.7:g.75182755T>C	NCBI36
NG_027694.1:g.73063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.*187T>C (FLVCR2) MANE Select	ENSP00000238667.4:n.*187T>C
ENST00000238667.8:c.*187T>C (FLVCR2)	ENSP00000238667.4:n.*187T>C
ENST00000553587.5:c.368+11646T>C (FLVCR2)	ENSP00000451603.1:n.368+11646T>C
ENST00000554132.1:n.72+12963T>C (TTLL5)
ENST00000555385.1:n.59-16396T>C (FLVCR2)
ENST00000556241.5:n.408+11646T>C (FLVCR2)
ENST00000556265.5:n.176+11646T>C (TTLL5)
ENST00000556856.1:c.*173T>C (FLVCR2)	ENSP00000452468.1:n.*173T>C
NM_001195283.1:c.*187T>C (FLVCR2)	NP_001182212.1:n.*187T>C
NM_017791.2:c.*187T>C (FLVCR2)	NP_060261.2:n.*187T>C
NM_017791.3:c.*187T>C (FLVCR2) MANE Select	NP_060261.2:n.*187T>C
NM_001195283.2:c.*187T>C (FLVCR2)	NP_001182212.1:n.*187T>C