Canonical Allele Identifier: CA1979444842
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868588G= , CM000673.2:g.65868588G= GRCh38
NC_000011.9:g.65636059G= , CM000673.1:g.65636059G= GRCh37
NC_000011.8:g.65392635G= NCBI36
NG_012304.2:g.9347C=
NG_053116.1:g.13527G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.769C= MANE Select ENSP00000309953.6:p.Arg257=
ENST00000307998.10:c.769C= ENSP00000309953.6:p.Arg257=
ENST00000526628.5:n.1335C=
ENST00000527969.1:n.1454C=
ENST00000528176.5:c.769C= ENSP00000434151.1:p.Arg257=
ENST00000531005.5:n.1763C=
ENST00000531972.5:c.769C= ENSP00000435295.1:p.Arg257=
ENST00000532084.5:n.195C=
NM_016938.4:c.769C= NP_058634.4:p.Arg257=
NR_037718.1:n.1028C=
NM_016938.5:c.769C= MANE Select NP_058634.4:p.Arg257=
NR_037718.2:n.894C=