Canonical Allele Identifier: CA475480111

Gene: EFEMP2 MUS81

Linked Data

• MyVariant Identifiers: chr11:g.65634437G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866966G>T , CM000673.2:g.65866966G>T	GRCh38
NC_000011.9:g.65634437G>T , CM000673.1:g.65634437G>T	GRCh37
NC_000011.8:g.65391013G>T	NCBI36
NG_012304.2:g.10969C>A
NG_053116.1:g.11905G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1284C>A (EFEMP2) MANE Select	ENSP00000309953.6:p.Ala428=
ENST00000307998.10:c.1284C>A (EFEMP2)	ENSP00000309953.6:p.Ala428=
ENST00000524408.1:c.160C>A (EFEMP2)
ENST00000525006.1:n.38-291G>T (MUS81)
ENST00000526628.5:n.1850C>A (EFEMP2)
ENST00000526911.1:c.206+55C>A (EFEMP2)	ENSP00000436536.1:n.206+55C>A
ENST00000527277.5:c.115C>A (EFEMP2)
ENST00000528176.5:c.1171-254C>A (EFEMP2)	ENSP00000434151.1:n.1171-254C>A
ENST00000528409.1:n.517C>A (EFEMP2)
ENST00000531645.5:c.319-32C>A (EFEMP2)	ENSP00000436521.1:n.319-32C>A
ENST00000531972.5:c.1284C>A (EFEMP2)	ENSP00000435295.1:p.Ala428=
ENST00000532648.1:n.139C>A (EFEMP2)
NM_016938.4:c.1284C>A (EFEMP2)	NP_058634.4:p.Ala428=
NR_037718.1:n.1543C>A (EFEMP2)
NR_146598.1:n.1845-291G>T (MUS81)
NM_016938.5:c.1284C>A (EFEMP2) MANE Select	NP_058634.4:p.Ala428=
NR_037718.2:n.1409C>A (EFEMP2)
NR_146598.2:n.1813-291G>T (MUS81)