Canonical Allele Identifier: CA1979444959
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868637A= , CM000673.2:g.65868637A= GRCh38
NC_000011.9:g.65636108A= , CM000673.1:g.65636108A= GRCh37
NC_000011.8:g.65392684A= NCBI36
NG_012304.2:g.9298T=
NG_053116.1:g.13576A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.728-8T= MANE Select ENSP00000309953.6:n.728-8T=
ENST00000307998.10:c.728-8T= ENSP00000309953.6:n.728-8T=
ENST00000526628.5:n.1286T=
ENST00000527969.1:n.1405T=
ENST00000528176.5:c.728-8T= ENSP00000434151.1:n.728-8T=
ENST00000531005.5:n.1722-8T=
ENST00000531972.5:c.728-8T= ENSP00000435295.1:n.728-8T=
ENST00000532084.5:n.154-8T=
NM_016938.4:c.728-8T= NP_058634.4:n.728-8T=
NR_037718.1:n.987-8T=
NM_016938.5:c.728-8T= MANE Select NP_058634.4:n.728-8T=
NR_037718.2:n.853-8T=