Canonical Allele Identifier: CA7278510

Gene: FLVCR2 TTLL5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75641008C>T , CM000676.2:g.75641008C>T	GRCh38
NC_000014.8:g.76107351C>T , CM000676.1:g.76107351C>T	GRCh37
NC_000014.7:g.75177104C>T	NCBI36
NG_027694.1:g.67412C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017791.3:c.1289C>T (FLVCR2) MANE Select	NP_060261.2:p.Thr430Met
ENST00000238667.9:c.1289C>T (FLVCR2) MANE Select	ENSP00000238667.4:p.Thr430Met
NM_001195283.1:c.674C>T (FLVCR2)	NP_001182212.1:p.Thr225Met
NM_001195283.2:c.674C>T (FLVCR2)	NP_001182212.1:p.Thr225Met
NM_017791.2:c.1289C>T (FLVCR2)	NP_060261.2:p.Thr430Met
ENST00000238667.8:c.1289C>T (FLVCR2)	ENSP00000238667.4:p.Thr430Met
ENST00000539311.5:c.674C>T (FLVCR2)	ENSP00000443439.1:p.Thr225Met
ENST00000553341.5:c.392C>T (FLVCR2)	ENSP00000452584.1:p.Thr131Met
ENST00000553587.5:c.368+5995C>T (FLVCR2)	ENSP00000451603.1:n.368+5995C>T
ENST00000554132.1:n.72+7312C>T (TTLL5)
ENST00000554496.1:n.187-5393C>T (FLVCR2)
ENST00000554580.5:c.389C>T (FLVCR2)	ENSP00000451781.1:p.Thr130Met
ENST00000555027.1:c.434C>T (FLVCR2)	ENSP00000452453.1:p.Thr145Met
ENST00000555385.1:n.59-22047C>T (FLVCR2)
ENST00000556241.5:n.408+5995C>T (FLVCR2)
ENST00000556265.5:n.176+5995C>T (TTLL5)
ENST00000556745.1:n.277C>T (FLVCR2)
ENST00000556856.1:c.197-5393C>T (FLVCR2)	ENSP00000452468.1:n.197-5393C>T