Canonical Allele Identifier: CA1979444482
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868490C= , CM000673.2:g.65868490C= GRCh38
NC_000011.9:g.65635961C= , CM000673.1:g.65635961C= GRCh37
NC_000011.8:g.65392537C= NCBI36
NG_012304.2:g.9445G=
NG_053116.1:g.13429C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.847+20G= MANE Select ENSP00000309953.6:n.847+20G=
ENST00000307998.10:c.847+20G= ENSP00000309953.6:n.847+20G=
ENST00000526628.5:n.1413+20G=
ENST00000527969.1:n.1552G=
ENST00000528176.5:c.847+20G= ENSP00000434151.1:n.847+20G=
ENST00000528409.1:n.23G=
ENST00000530806.5:c.-152+20G= ENSP00000436526.1:n.-152+20G=
ENST00000531005.5:n.1841+20G=
ENST00000531972.5:c.847+20G= ENSP00000435295.1:n.847+20G=
ENST00000532084.5:n.273+20G=
NM_016938.4:c.847+20G= NP_058634.4:n.847+20G=
NR_037718.1:n.1106+20G=
NM_016938.5:c.847+20G= MANE Select NP_058634.4:n.847+20G=
NR_037718.2:n.972+20G=