Canonical Allele Identifier: CA1979444748
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868577G= , CM000673.2:g.65868577G= GRCh38
NC_000011.9:g.65636048G= , CM000673.1:g.65636048G= GRCh37
NC_000011.8:g.65392624G= NCBI36
NG_012304.2:g.9358C=
NG_053116.1:g.13516G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.780C= MANE Select ENSP00000309953.6:p.Asn260=
ENST00000307998.10:c.780C= ENSP00000309953.6:p.Asn260=
ENST00000526628.5:n.1346C=
ENST00000527969.1:n.1465C=
ENST00000528176.5:c.780C= ENSP00000434151.1:p.Asn260=
ENST00000531005.5:n.1774C=
ENST00000531972.5:c.780C= ENSP00000435295.1:p.Asn260=
ENST00000532084.5:n.206C=
NM_016938.4:c.780C= NP_058634.4:p.Asn260=
NR_037718.1:n.1039C=
NM_016938.5:c.780C= MANE Select NP_058634.4:p.Asn260=
NR_037718.2:n.905C=