Canonical Allele Identifier: CA381349711

Gene: EFEMP2 MUS81

Linked Data

• MyVariant Identifiers: chr11:g.65634534C>A (hg19) ; chr11:g.65867063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867063C>A , CM000673.2:g.65867063C>A	GRCh38
NC_000011.9:g.65634534C>A , CM000673.1:g.65634534C>A	GRCh37
NC_000011.8:g.65391110C>A	NCBI36
NG_012304.2:g.10872G>T
NG_053116.1:g.12002C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1187G>T (EFEMP2) MANE Select	ENSP00000309953.6:p.Ser396Ile
ENST00000307998.10:c.1187G>T (EFEMP2)	ENSP00000309953.6:p.Ser396Ile
ENST00000524408.1:c.63G>T (EFEMP2)
ENST00000525006.1:n.38-194C>A (MUS81)
ENST00000526628.5:n.1753G>T (EFEMP2)
ENST00000526911.1:c.164G>T (EFEMP2)	ENSP00000436536.1:p.Ser55Ile
ENST00000527277.5:c.18G>T (EFEMP2)
ENST00000528176.5:c.1171-351G>T (EFEMP2)	ENSP00000434151.1:n.1171-351G>T
ENST00000528409.1:n.420G>T (EFEMP2)
ENST00000530806.5:c.146G>T (EFEMP2)	ENSP00000436526.1:p.Ser49Ile
ENST00000531645.5:c.319-129G>T (EFEMP2)	ENSP00000436521.1:n.319-129G>T
ENST00000531972.5:c.1187G>T (EFEMP2)	ENSP00000435295.1:p.Ser396Ile
ENST00000532648.1:n.42G>T (EFEMP2)
NM_016938.4:c.1187G>T (EFEMP2)	NP_058634.4:p.Ser396Ile
NR_037718.1:n.1446G>T (EFEMP2)
NR_146598.1:n.1845-194C>A (MUS81)
NM_016938.5:c.1187G>T (EFEMP2) MANE Select	NP_058634.4:p.Ser396Ile
NR_037718.2:n.1312G>T (EFEMP2)
NR_146598.2:n.1813-194C>A (MUS81)