Canonical Allele Identifier: CA1979444547
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868521C= , CM000673.2:g.65868521C= GRCh38
NC_000011.9:g.65635992C= , CM000673.1:g.65635992C= GRCh37
NC_000011.8:g.65392568C= NCBI36
NG_012304.2:g.9414G=
NG_053116.1:g.13460C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.836G= MANE Select ENSP00000309953.6:p.Arg279=
ENST00000307998.10:c.836G= ENSP00000309953.6:p.Arg279=
ENST00000526628.5:n.1402G=
ENST00000527969.1:n.1521G=
ENST00000528176.5:c.836G= ENSP00000434151.1:p.Arg279=
ENST00000530806.5:c.-163G= ENSP00000436526.1:n.-163G=
ENST00000531005.5:n.1830G=
ENST00000531972.5:c.836G= ENSP00000435295.1:p.Arg279=
ENST00000532084.5:n.262G=
NM_016938.4:c.836G= NP_058634.4:p.Arg279=
NR_037718.1:n.1095G=
NM_016938.5:c.836G= MANE Select NP_058634.4:p.Arg279=
NR_037718.2:n.961G=