Canonical Allele Identifier: CA1979443850
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868331T= , CM000673.2:g.65868331T= GRCh38
NC_000011.9:g.65635802T= , CM000673.1:g.65635802T= GRCh37
NC_000011.8:g.65392378T= NCBI36
NG_012304.2:g.9604A=
NG_053116.1:g.13270T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.938A= MANE Select ENSP00000309953.6:p.Asn313=
ENST00000307998.10:c.938A= ENSP00000309953.6:p.Asn313=
ENST00000525392.1:n.99A=
ENST00000526628.5:n.1504A=
ENST00000528176.5:c.938A= ENSP00000434151.1:p.Asn313=
ENST00000528409.1:n.182A=
ENST00000530806.5:c.-61A= ENSP00000436526.1:n.-61A=
ENST00000531005.5:n.1932A=
ENST00000531645.5:c.86A= ENSP00000436521.1:p.Asn29=
ENST00000531972.5:c.938A= ENSP00000435295.1:p.Asn313=
ENST00000532084.5:n.364A=
NM_016938.4:c.938A= NP_058634.4:p.Asn313=
NR_037718.1:n.1197A=
NM_016938.5:c.938A= MANE Select NP_058634.4:p.Asn313=
NR_037718.2:n.1063A=