Canonical Allele Identifier: CA658658071

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 452179
• ClinVar RCV Id: RCV000519163
• dbSNP Id: rs1555042450
• MyVariant Identifiers: chr11:g.65634432_65634442del (hg19) ; chr11:g.65866961_65866971del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866962_65866972del , CM000673.2:g.65866962_65866972del	GRCh38
NC_000011.9:g.65634433_65634443del , CM000673.1:g.65634433_65634443del	GRCh37
NC_000011.8:g.65391009_65391019del	NCBI36
NG_012304.2:g.10964_10974del
NG_053116.1:g.11901_11911del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1279_1289del (EFEMP2) MANE Select	ENSP00000309953.6:p.Arg427CysfsTer27
ENST00000307998.10:c.1279_1289del (EFEMP2)	ENSP00000309953.6:p.Arg427CysfsTer27
ENST00000524408.1:c.155_165del (EFEMP2)
ENST00000525006.1:n.38-295_38-285del (MUS81)
ENST00000526628.5:n.1845_1855del (EFEMP2)
ENST00000526911.1:c.206+50_206+60del (EFEMP2)	ENSP00000436536.1:n.206+50_206+60del
ENST00000527277.5:c.110_120del (EFEMP2)
ENST00000528176.5:c.1171-259_1171-249del (EFEMP2)	ENSP00000434151.1:n.1171-259_1171-249del
ENST00000528409.1:n.512_522del (EFEMP2)
ENST00000531645.5:c.319-37_319-27del (EFEMP2)	ENSP00000436521.1:n.319-37_319-27del
ENST00000531972.5:c.1279_1289del (EFEMP2)	ENSP00000435295.1:p.Arg427CysfsTer27
ENST00000532648.1:n.134_144del (EFEMP2)
NM_016938.4:c.1279_1289del (EFEMP2)	NP_058634.4:p.Arg427CysfsTer27
NR_037718.1:n.1538_1548del (EFEMP2)
NR_146598.1:n.1845-295_1845-285del (MUS81)
NM_016938.5:c.1279_1289del (EFEMP2) MANE Select	NP_058634.4:p.Arg427CysfsTer27
NR_037718.2:n.1404_1414del (EFEMP2)
NR_146598.2:n.1813-295_1813-285del (MUS81)