Canonical Allele Identifier: CA1979444899
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868605C= , CM000673.2:g.65868605C= GRCh38
NC_000011.9:g.65636076C= , CM000673.1:g.65636076C= GRCh37
NC_000011.8:g.65392652C= NCBI36
NG_012304.2:g.9330G=
NG_053116.1:g.13544C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.752G= MANE Select ENSP00000309953.6:p.Ser251=
ENST00000307998.10:c.752G= ENSP00000309953.6:p.Ser251=
ENST00000526628.5:n.1318G=
ENST00000527969.1:n.1437G=
ENST00000528176.5:c.752G= ENSP00000434151.1:p.Ser251=
ENST00000531005.5:n.1746G=
ENST00000531972.5:c.752G= ENSP00000435295.1:p.Ser251=
ENST00000532084.5:n.178G=
NM_016938.4:c.752G= NP_058634.4:p.Ser251=
NR_037718.1:n.1011G=
NM_016938.5:c.752G= MANE Select NP_058634.4:p.Ser251=
NR_037718.2:n.877G=