Canonical Allele Identifier: CA381348299

Gene: EFEMP2 MUS81

Linked Data

• MyVariant Identifiers: chr11:g.65634432G>C (hg19) ; chr11:g.65866961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866961G>C , CM000673.2:g.65866961G>C	GRCh38
NC_000011.9:g.65634432G>C , CM000673.1:g.65634432G>C	GRCh37
NC_000011.8:g.65391008G>C	NCBI36
NG_012304.2:g.10974C>G
NG_053116.1:g.11900G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1289C>G (EFEMP2) MANE Select	ENSP00000309953.6:p.Ser430Cys
ENST00000307998.10:c.1289C>G (EFEMP2)	ENSP00000309953.6:p.Ser430Cys
ENST00000524408.1:c.165C>G (EFEMP2)
ENST00000525006.1:n.38-296G>C (MUS81)
ENST00000526628.5:n.1855C>G (EFEMP2)
ENST00000526911.1:c.206+60C>G (EFEMP2)	ENSP00000436536.1:n.206+60C>G
ENST00000527277.5:c.120C>G (EFEMP2)
ENST00000528176.5:c.1171-249C>G (EFEMP2)	ENSP00000434151.1:n.1171-249C>G
ENST00000528409.1:n.522C>G (EFEMP2)
ENST00000531645.5:c.319-27C>G (EFEMP2)	ENSP00000436521.1:n.319-27C>G
ENST00000531972.5:c.1289C>G (EFEMP2)	ENSP00000435295.1:p.Ser430Cys
ENST00000532648.1:n.144C>G (EFEMP2)
NM_016938.4:c.1289C>G (EFEMP2)	NP_058634.4:p.Ser430Cys
NR_037718.1:n.1548C>G (EFEMP2)
NR_146598.1:n.1845-296G>C (MUS81)
NM_016938.5:c.1289C>G (EFEMP2) MANE Select	NP_058634.4:p.Ser430Cys
NR_037718.2:n.1414C>G (EFEMP2)
NR_146598.2:n.1813-296G>C (MUS81)