Canonical Allele Identifier: CA281559
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5424
dbSNP Id: rs119489102

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868522G>A , CM000673.2:g.65868522G>A GRCh38
NC_000011.9:g.65635993G>A , CM000673.1:g.65635993G>A GRCh37
NC_000011.8:g.65392569G>A NCBI36
NG_012304.2:g.9413C>T
NG_053116.1:g.13461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.835C>T MANE Select ENSP00000309953.6:p.Arg279Cys
ENST00000307998.10:c.835C>T ENSP00000309953.6:p.Arg279Cys
ENST00000526628.5:n.1401C>T
ENST00000527969.1:n.1520C>T
ENST00000528176.5:c.835C>T ENSP00000434151.1:p.Arg279Cys
ENST00000530806.5:c.-164C>T ENSP00000436526.1:n.-164C>T
ENST00000531005.5:n.1829C>T
ENST00000531972.5:c.835C>T ENSP00000435295.1:p.Arg279Cys
ENST00000532084.5:n.261C>T
NM_016938.4:c.835C>T NP_058634.4:p.Arg279Cys
NR_037718.1:n.1094C>T
NM_016938.5:c.835C>T MANE Select NP_058634.4:p.Arg279Cys
NR_037718.2:n.960C>T