Canonical Allele Identifier: CA1979444727
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868574C= , CM000673.2:g.65868574C= GRCh38
NC_000011.9:g.65636045C= , CM000673.1:g.65636045C= GRCh37
NC_000011.8:g.65392621C= NCBI36
NG_012304.2:g.9361G=
NG_053116.1:g.13513C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.783G= MANE Select ENSP00000309953.6:p.Glu261=
ENST00000307998.10:c.783G= ENSP00000309953.6:p.Glu261=
ENST00000526628.5:n.1349G=
ENST00000527969.1:n.1468G=
ENST00000528176.5:c.783G= ENSP00000434151.1:p.Glu261=
ENST00000531005.5:n.1777G=
ENST00000531972.5:c.783G= ENSP00000435295.1:p.Glu261=
ENST00000532084.5:n.209G=
NM_016938.4:c.783G= NP_058634.4:p.Glu261=
NR_037718.1:n.1042G=
NM_016938.5:c.783G= MANE Select NP_058634.4:p.Glu261=
NR_037718.2:n.908G=