Canonical Allele Identifier: CA1979444720
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868569C= , CM000673.2:g.65868569C= GRCh38
NC_000011.9:g.65636040C= , CM000673.1:g.65636040C= GRCh37
NC_000011.8:g.65392616C= NCBI36
NG_012304.2:g.9366G=
NG_053116.1:g.13508C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.788G= MANE Select ENSP00000309953.6:p.Gly263=
ENST00000307998.10:c.788G= ENSP00000309953.6:p.Gly263=
ENST00000526628.5:n.1354G=
ENST00000527969.1:n.1473G=
ENST00000528176.5:c.788G= ENSP00000434151.1:p.Gly263=
ENST00000531005.5:n.1782G=
ENST00000531972.5:c.788G= ENSP00000435295.1:p.Gly263=
ENST00000532084.5:n.214G=
NM_016938.4:c.788G= NP_058634.4:p.Gly263=
NR_037718.1:n.1047G=
NM_016938.5:c.788G= MANE Select NP_058634.4:p.Gly263=
NR_037718.2:n.913G=