Canonical Allele Identifier: CA1979445115
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868709C= , CM000673.2:g.65868709C= GRCh38
NC_000011.9:g.65636180C= , CM000673.1:g.65636180C= GRCh37
NC_000011.8:g.65392756C= NCBI36
NG_012304.2:g.9226G=
NG_053116.1:g.13648C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.728-80G= MANE Select ENSP00000309953.6:n.728-80G=
ENST00000307998.10:c.728-80G= ENSP00000309953.6:n.728-80G=
ENST00000526628.5:n.1214G=
ENST00000527969.1:n.1333G=
ENST00000528176.5:c.728-80G= ENSP00000434151.1:n.728-80G=
ENST00000531005.5:n.1722-80G=
ENST00000531972.5:c.728-80G= ENSP00000435295.1:n.728-80G=
ENST00000532084.5:n.154-80G=
NM_016938.4:c.728-80G= NP_058634.4:n.728-80G=
NR_037718.1:n.987-80G=
NM_016938.5:c.728-80G= MANE Select NP_058634.4:n.728-80G=
NR_037718.2:n.853-80G=