Canonical Allele Identifier: CA6110377

Gene: EFEMP2 MUS81

Linked Data

• dbSNP Id: rs757242078
• ExAC: 11:65634543 T / C
• gnomAD v2: 11-65634543-T-C
• gnomAD v3: 11-65867072-T-C
• gnomAD v4: 11-65867072-T-C
• MyVariant Identifiers: chr11:g.65634543T>C (hg19) ; chr11:g.65867072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867072T>C , CM000673.2:g.65867072T>C	GRCh38
NC_000011.9:g.65634543T>C , CM000673.1:g.65634543T>C	GRCh37
NC_000011.8:g.65391119T>C	NCBI36
NG_012304.2:g.10863A>G
NG_053116.1:g.12011T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1178A>G (EFEMP2) MANE Select	ENSP00000309953.6:p.Asn393Ser
ENST00000307998.10:c.1178A>G (EFEMP2)	ENSP00000309953.6:p.Asn393Ser
ENST00000524408.1:c.54A>G (EFEMP2)
ENST00000525006.1:n.38-185T>C (MUS81)
ENST00000526628.5:n.1744A>G (EFEMP2)
ENST00000526911.1:c.155A>G (EFEMP2)	ENSP00000436536.1:p.Asn52Ser
ENST00000527277.5:c.9A>G (EFEMP2)
ENST00000528176.5:c.1171-360A>G (EFEMP2)	ENSP00000434151.1:n.1171-360A>G
ENST00000528409.1:n.411A>G (EFEMP2)
ENST00000530806.5:c.137A>G (EFEMP2)	ENSP00000436526.1:p.Asn46Ser
ENST00000531645.5:c.319-138A>G (EFEMP2)	ENSP00000436521.1:n.319-138A>G
ENST00000531972.5:c.1178A>G (EFEMP2)	ENSP00000435295.1:p.Asn393Ser
ENST00000532648.1:n.33A>G (EFEMP2)
NM_016938.4:c.1178A>G (EFEMP2)	NP_058634.4:p.Asn393Ser
NR_037718.1:n.1437A>G (EFEMP2)
NR_146598.1:n.1845-185T>C (MUS81)
NM_016938.5:c.1178A>G (EFEMP2) MANE Select	NP_058634.4:p.Asn393Ser
NR_037718.2:n.1303A>G (EFEMP2)
NR_146598.2:n.1813-185T>C (MUS81)