Canonical Allele Identifier: CA1979444712
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868568G= , CM000673.2:g.65868568G= GRCh38
NC_000011.9:g.65636039G= , CM000673.1:g.65636039G= GRCh37
NC_000011.8:g.65392615G= NCBI36
NG_012304.2:g.9367C=
NG_053116.1:g.13507G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.789C= MANE Select ENSP00000309953.6:p.Gly263=
ENST00000307998.10:c.789C= ENSP00000309953.6:p.Gly263=
ENST00000526628.5:n.1355C=
ENST00000527969.1:n.1474C=
ENST00000528176.5:c.789C= ENSP00000434151.1:p.Gly263=
ENST00000531005.5:n.1783C=
ENST00000531972.5:c.789C= ENSP00000435295.1:p.Gly263=
ENST00000532084.5:n.215C=
NM_016938.4:c.789C= NP_058634.4:p.Gly263=
NR_037718.1:n.1048C=
NM_016938.5:c.789C= MANE Select NP_058634.4:p.Gly263=
NR_037718.2:n.914C=