Canonical Allele Identifier: CA1979443971
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868353C= , CM000673.2:g.65868353C= GRCh38
NC_000011.9:g.65635824C= , CM000673.1:g.65635824C= GRCh37
NC_000011.8:g.65392400C= NCBI36
NG_012304.2:g.9582G=
NG_053116.1:g.13292C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.916G= MANE Select ENSP00000309953.6:p.Gly306=
ENST00000307998.10:c.916G= ENSP00000309953.6:p.Gly306=
ENST00000525392.1:n.77G=
ENST00000526628.5:n.1482G=
ENST00000528176.5:c.916G= ENSP00000434151.1:p.Gly306=
ENST00000528409.1:n.160G=
ENST00000530806.5:c.-83G= ENSP00000436526.1:n.-83G=
ENST00000531005.5:n.1910G=
ENST00000531645.5:c.64G= ENSP00000436521.1:p.Gly22=
ENST00000531972.5:c.916G= ENSP00000435295.1:p.Gly306=
ENST00000532084.5:n.342G=
NM_016938.4:c.916G= NP_058634.4:p.Gly306=
NR_037718.1:n.1175G=
NM_016938.5:c.916G= MANE Select NP_058634.4:p.Gly306=
NR_037718.2:n.1041G=