Canonical Allele Identifier: CA1979444450
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868475C= , CM000673.2:g.65868475C= GRCh38
NC_000011.9:g.65635946C= , CM000673.1:g.65635946C= GRCh37
NC_000011.8:g.65392522C= NCBI36
NG_012304.2:g.9460G=
NG_053116.1:g.13414C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.847+35G= MANE Select ENSP00000309953.6:n.847+35G=
ENST00000307998.10:c.847+35G= ENSP00000309953.6:n.847+35G=
ENST00000526628.5:n.1413+35G=
ENST00000528176.5:c.847+35G= ENSP00000434151.1:n.847+35G=
ENST00000528409.1:n.38G=
ENST00000530806.5:c.-152+35G= ENSP00000436526.1:n.-152+35G=
ENST00000531005.5:n.1841+35G=
ENST00000531972.5:c.847+35G= ENSP00000435295.1:n.847+35G=
ENST00000532084.5:n.273+35G=
NM_016938.4:c.847+35G= NP_058634.4:n.847+35G=
NR_037718.1:n.1106+35G=
NM_016938.5:c.847+35G= MANE Select NP_058634.4:n.847+35G=
NR_037718.2:n.972+35G=