Canonical Allele Identifier: CA1979445088
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868678A= , CM000673.2:g.65868678A= GRCh38
NC_000011.9:g.65636149A= , CM000673.1:g.65636149A= GRCh37
NC_000011.8:g.65392725A= NCBI36
NG_012304.2:g.9257T=
NG_053116.1:g.13617A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.728-49T= MANE Select ENSP00000309953.6:n.728-49T=
ENST00000307998.10:c.728-49T= ENSP00000309953.6:n.728-49T=
ENST00000526628.5:n.1245T=
ENST00000527969.1:n.1364T=
ENST00000528176.5:c.728-49T= ENSP00000434151.1:n.728-49T=
ENST00000531005.5:n.1722-49T=
ENST00000531972.5:c.728-49T= ENSP00000435295.1:n.728-49T=
ENST00000532084.5:n.154-49T=
NM_016938.4:c.728-49T= NP_058634.4:n.728-49T=
NR_037718.1:n.987-49T=
NM_016938.5:c.728-49T= MANE Select NP_058634.4:n.728-49T=
NR_037718.2:n.853-49T=