Canonical Allele Identifier: CA1979444975
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868646A= , CM000673.2:g.65868646A= GRCh38
NC_000011.9:g.65636117A= , CM000673.1:g.65636117A= GRCh37
NC_000011.8:g.65392693A= NCBI36
NG_012304.2:g.9289T=
NG_053116.1:g.13585A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.728-17T= MANE Select ENSP00000309953.6:n.728-17T=
ENST00000307998.10:c.728-17T= ENSP00000309953.6:n.728-17T=
ENST00000526628.5:n.1277T=
ENST00000527969.1:n.1396T=
ENST00000528176.5:c.728-17T= ENSP00000434151.1:n.728-17T=
ENST00000531005.5:n.1722-17T=
ENST00000531972.5:c.728-17T= ENSP00000435295.1:n.728-17T=
ENST00000532084.5:n.154-17T=
NM_016938.4:c.728-17T= NP_058634.4:n.728-17T=
NR_037718.1:n.987-17T=
NM_016938.5:c.728-17T= MANE Select NP_058634.4:n.728-17T=
NR_037718.2:n.853-17T=