Canonical Allele Identifier: CA1979444973

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859908566

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868645del , CM000673.2:g.65868645del	GRCh38
NC_000011.9:g.65636116del , CM000673.1:g.65636116del	GRCh37
NC_000011.8:g.65392692del	NCBI36
NG_012304.2:g.9293del
NG_053116.1:g.13584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-13del MANE Select	ENSP00000309953.6:n.728-13del
ENST00000307998.10:c.728-13del	ENSP00000309953.6:n.728-13del
ENST00000526628.5:n.1281del
ENST00000527969.1:n.1400del
ENST00000528176.5:c.728-13del	ENSP00000434151.1:n.728-13del
ENST00000531005.5:n.1722-13del
ENST00000531972.5:c.728-13del	ENSP00000435295.1:n.728-13del
ENST00000532084.5:n.154-13del
NM_016938.4:c.728-13del	NP_058634.4:n.728-13del
NR_037718.1:n.987-13del
NM_016938.5:c.728-13del MANE Select	NP_058634.4:n.728-13del
NR_037718.2:n.853-13del