Canonical Allele Identifier: CA6110314

Gene: EFEMP2 MUS81

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866636G>A , CM000673.2:g.65866636G>A	GRCh38
NC_000011.9:g.65634107G>A , CM000673.1:g.65634107G>A	GRCh37
NC_000011.8:g.65390683G>A	NCBI36
NG_012304.2:g.11299C>T
NG_053116.1:g.11575G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.*282C>T (EFEMP2) MANE Select	NP_058634.4:n.*282C>T
ENST00000307998.11:c.*282C>T (EFEMP2) MANE Select	ENSP00000309953.6:n.*282C>T
NM_016938.4:c.*282C>T (EFEMP2)	NP_058634.4:n.*282C>T
NR_037718.1:n.1741C>T (EFEMP2)
NR_037718.2:n.1607C>T (EFEMP2)
NR_146598.1:n.1845-621G>A (MUS81)
NR_146598.2:n.1813-621G>A (MUS81)
ENST00000307998.10:c.*282C>T (EFEMP2)	ENSP00000309953.6:n.*282C>T
ENST00000524408.1:c.337C>T (EFEMP2)
ENST00000525006.1:n.38-621G>A (MUS81)
ENST00000526628.5:n.2083C>T (EFEMP2)
ENST00000526911.1:c.283C>T (EFEMP2)	ENSP00000436536.1:n.283C>T
ENST00000527277.5:c.348C>T (EFEMP2)
ENST00000528176.5:c.1247C>T (EFEMP2)	ENSP00000434151.1:p.Thr416Met
ENST00000531645.5:c.485C>T (EFEMP2)	ENSP00000436521.1:p.Thr162Met
ENST00000531972.5:c.*150C>T (EFEMP2)	ENSP00000435295.1:n.*150C>T
ENST00000532648.1:n.337C>T (EFEMP2)