Canonical Allele Identifier: CA475480112

Gene: EFEMP2 MUS81

Linked Data

• gnomAD v4: 11-65866969-C-A
• MyVariant Identifiers: chr11:g.65634440C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866969C>A , CM000673.2:g.65866969C>A	GRCh38
NC_000011.9:g.65634440C>A , CM000673.1:g.65634440C>A	GRCh37
NC_000011.8:g.65391016C>A	NCBI36
NG_012304.2:g.10966G>T
NG_053116.1:g.11908C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1281G>T (EFEMP2) MANE Select	ENSP00000309953.6:p.Arg427=
ENST00000307998.10:c.1281G>T (EFEMP2)	ENSP00000309953.6:p.Arg427=
ENST00000524408.1:c.157G>T (EFEMP2)
ENST00000525006.1:n.38-288C>A (MUS81)
ENST00000526628.5:n.1847G>T (EFEMP2)
ENST00000526911.1:c.206+52G>T (EFEMP2)	ENSP00000436536.1:n.206+52G>T
ENST00000527277.5:c.112G>T (EFEMP2)
ENST00000528176.5:c.1171-257G>T (EFEMP2)	ENSP00000434151.1:n.1171-257G>T
ENST00000528409.1:n.514G>T (EFEMP2)
ENST00000531645.5:c.319-35G>T (EFEMP2)	ENSP00000436521.1:n.319-35G>T
ENST00000531972.5:c.1281G>T (EFEMP2)	ENSP00000435295.1:p.Arg427=
ENST00000532648.1:n.136G>T (EFEMP2)
NM_016938.4:c.1281G>T (EFEMP2)	NP_058634.4:p.Arg427=
NR_037718.1:n.1540G>T (EFEMP2)
NR_146598.1:n.1845-288C>A (MUS81)
NM_016938.5:c.1281G>T (EFEMP2) MANE Select	NP_058634.4:p.Arg427=
NR_037718.2:n.1406G>T (EFEMP2)
NR_146598.2:n.1813-288C>A (MUS81)