Canonical Allele Identifier: CA475315722

Gene: EFEMP2 MUS81

Linked Data

• MyVariant Identifiers: chr11:g.65634536G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867065G>T , CM000673.2:g.65867065G>T	GRCh38
NC_000011.9:g.65634536G>T , CM000673.1:g.65634536G>T	GRCh37
NC_000011.8:g.65391112G>T	NCBI36
NG_012304.2:g.10870C>A
NG_053116.1:g.12004G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1185C>A (EFEMP2) MANE Select	ENSP00000309953.6:p.Val395=
ENST00000307998.10:c.1185C>A (EFEMP2)	ENSP00000309953.6:p.Val395=
ENST00000524408.1:c.61C>A (EFEMP2)
ENST00000525006.1:n.38-192G>T (MUS81)
ENST00000526628.5:n.1751C>A (EFEMP2)
ENST00000526911.1:c.162C>A (EFEMP2)	ENSP00000436536.1:p.Val54=
ENST00000527277.5:c.16C>A (EFEMP2)
ENST00000528176.5:c.1171-353C>A (EFEMP2)	ENSP00000434151.1:n.1171-353C>A
ENST00000528409.1:n.418C>A (EFEMP2)
ENST00000530806.5:c.144C>A (EFEMP2)	ENSP00000436526.1:p.Val48=
ENST00000531645.5:c.319-131C>A (EFEMP2)	ENSP00000436521.1:n.319-131C>A
ENST00000531972.5:c.1185C>A (EFEMP2)	ENSP00000435295.1:p.Val395=
ENST00000532648.1:n.40C>A (EFEMP2)
NM_016938.4:c.1185C>A (EFEMP2)	NP_058634.4:p.Val395=
NR_037718.1:n.1444C>A (EFEMP2)
NR_146598.1:n.1845-192G>T (MUS81)
NM_016938.5:c.1185C>A (EFEMP2) MANE Select	NP_058634.4:p.Val395=
NR_037718.2:n.1310C>A (EFEMP2)
NR_146598.2:n.1813-192G>T (MUS81)