Canonical Allele Identifier: CA2580084501

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1766720
• ClinVar RCV Id: RCV002371736

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868330_65868332delinsATC , CM000673.2:g.65868330_65868332delinsATC	GRCh38
NC_000011.9:g.65635801_65635803delinsATC , CM000673.1:g.65635801_65635803delinsATC	GRCh37
NC_000011.8:g.65392377_65392379delinsATC	NCBI36
NG_012304.2:g.9603_9605delinsGAT
NG_053116.1:g.13269_13271delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.937_939delinsGAT MANE Select	ENSP00000309953.6:p.Asn313Asp
ENST00000307998.10:c.937_939delinsGAT	ENSP00000309953.6:p.Asn313Asp
ENST00000525392.1:n.98_100delinsGAT
ENST00000526628.5:n.1503_1505delinsGAT
ENST00000528176.5:c.937_939delinsGAT	ENSP00000434151.1:p.Asn313Asp
ENST00000528409.1:n.181_183delinsGAT
ENST00000530806.5:c.-62_-60delinsGAT	ENSP00000436526.1:n.-62_-60delinsGAT
ENST00000531005.5:n.1931_1933delinsGAT
ENST00000531645.5:c.85_87delinsGAT	ENSP00000436521.1:p.Asn29Asp
ENST00000531972.5:c.937_939delinsGAT	ENSP00000435295.1:p.Asn313Asp
ENST00000532084.5:n.363_365delinsGAT
NM_016938.4:c.937_939delinsGAT	NP_058634.4:p.Asn313Asp
NR_037718.1:n.1196_1198delinsGAT
NM_016938.5:c.937_939delinsGAT MANE Select	NP_058634.4:p.Asn313Asp
NR_037718.2:n.1062_1064delinsGAT