Canonical Allele Identifier: CA1979444479
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868489T= , CM000673.2:g.65868489T= GRCh38
NC_000011.9:g.65635960T= , CM000673.1:g.65635960T= GRCh37
NC_000011.8:g.65392536T= NCBI36
NG_012304.2:g.9446A=
NG_053116.1:g.13428T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.847+21A= MANE Select ENSP00000309953.6:n.847+21A=
ENST00000307998.10:c.847+21A= ENSP00000309953.6:n.847+21A=
ENST00000526628.5:n.1413+21A=
ENST00000527969.1:n.1553A=
ENST00000528176.5:c.847+21A= ENSP00000434151.1:n.847+21A=
ENST00000528409.1:n.24A=
ENST00000530806.5:c.-152+21A= ENSP00000436526.1:n.-152+21A=
ENST00000531005.5:n.1841+21A=
ENST00000531972.5:c.847+21A= ENSP00000435295.1:n.847+21A=
ENST00000532084.5:n.273+21A=
NM_016938.4:c.847+21A= NP_058634.4:n.847+21A=
NR_037718.1:n.1106+21A=
NM_016938.5:c.847+21A= MANE Select NP_058634.4:n.847+21A=
NR_037718.2:n.972+21A=