Canonical Allele Identifier: CA6110351

Gene: EFEMP2 MUS81

Linked Data

• dbSNP Id: rs193238913
• ExAC: 11:65634445 A / G
• gnomAD v2: 11-65634445-A-G
• gnomAD v3: 11-65866974-A-G
• gnomAD v4: 11-65866974-A-G
• MyVariant Identifiers: chr11:g.65634445A>G (hg19) ; chr11:g.65866974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866974A>G , CM000673.2:g.65866974A>G	GRCh38
NC_000011.9:g.65634445A>G , CM000673.1:g.65634445A>G	GRCh37
NC_000011.8:g.65391021A>G	NCBI36
NG_012304.2:g.10961T>C
NG_053116.1:g.11913A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1276T>C (EFEMP2) MANE Select	ENSP00000309953.6:p.Tyr426His
ENST00000307998.10:c.1276T>C (EFEMP2)	ENSP00000309953.6:p.Tyr426His
ENST00000524408.1:c.152T>C (EFEMP2)
ENST00000525006.1:n.38-283A>G (MUS81)
ENST00000526628.5:n.1842T>C (EFEMP2)
ENST00000526911.1:c.206+47T>C (EFEMP2)	ENSP00000436536.1:n.206+47T>C
ENST00000527277.5:c.107T>C (EFEMP2)
ENST00000528176.5:c.1171-262T>C (EFEMP2)	ENSP00000434151.1:n.1171-262T>C
ENST00000528409.1:n.509T>C (EFEMP2)
ENST00000531645.5:c.319-40T>C (EFEMP2)	ENSP00000436521.1:n.319-40T>C
ENST00000531972.5:c.1276T>C (EFEMP2)	ENSP00000435295.1:p.Tyr426His
ENST00000532648.1:n.131T>C (EFEMP2)
NM_016938.4:c.1276T>C (EFEMP2)	NP_058634.4:p.Tyr426His
NR_037718.1:n.1535T>C (EFEMP2)
NR_146598.1:n.1845-283A>G (MUS81)
NM_016938.5:c.1276T>C (EFEMP2) MANE Select	NP_058634.4:p.Tyr426His
NR_037718.2:n.1401T>C (EFEMP2)
NR_146598.2:n.1813-283A>G (MUS81)