Canonical Allele Identifier: CA381349823

Gene: EFEMP2 MUS81

Linked Data

• dbSNP Id: rs1186333803
• gnomAD v2: 11-65634542-G-C
• gnomAD v4: 11-65867071-G-C
• MyVariant Identifiers: chr11:g.65634542G>C (hg19) ; chr11:g.65867071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867071G>C , CM000673.2:g.65867071G>C	GRCh38
NC_000011.9:g.65634542G>C , CM000673.1:g.65634542G>C	GRCh37
NC_000011.8:g.65391118G>C	NCBI36
NG_012304.2:g.10864C>G
NG_053116.1:g.12010G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1179C>G (EFEMP2) MANE Select	ENSP00000309953.6:p.Asn393Lys
ENST00000307998.10:c.1179C>G (EFEMP2)	ENSP00000309953.6:p.Asn393Lys
ENST00000524408.1:c.55C>G (EFEMP2)
ENST00000525006.1:n.38-186G>C (MUS81)
ENST00000526628.5:n.1745C>G (EFEMP2)
ENST00000526911.1:c.156C>G (EFEMP2)	ENSP00000436536.1:p.Asn52Lys
ENST00000527277.5:c.10C>G (EFEMP2)
ENST00000528176.5:c.1171-359C>G (EFEMP2)	ENSP00000434151.1:n.1171-359C>G
ENST00000528409.1:n.412C>G (EFEMP2)
ENST00000530806.5:c.138C>G (EFEMP2)	ENSP00000436526.1:p.Asn46Lys
ENST00000531645.5:c.319-137C>G (EFEMP2)	ENSP00000436521.1:n.319-137C>G
ENST00000531972.5:c.1179C>G (EFEMP2)	ENSP00000435295.1:p.Asn393Lys
ENST00000532648.1:n.34C>G (EFEMP2)
NM_016938.4:c.1179C>G (EFEMP2)	NP_058634.4:p.Asn393Lys
NR_037718.1:n.1438C>G (EFEMP2)
NR_146598.1:n.1845-186G>C (MUS81)
NM_016938.5:c.1179C>G (EFEMP2) MANE Select	NP_058634.4:p.Asn393Lys
NR_037718.2:n.1304C>G (EFEMP2)
NR_146598.2:n.1813-186G>C (MUS81)