Canonical Allele Identifier: CA381349708

Gene: EFEMP2 MUS81

Linked Data

• gnomAD v4: 11-65867063-C-T
• MyVariant Identifiers: chr11:g.65634534C>T (hg19) ; chr11:g.65867063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867063C>T , CM000673.2:g.65867063C>T	GRCh38
NC_000011.9:g.65634534C>T , CM000673.1:g.65634534C>T	GRCh37
NC_000011.8:g.65391110C>T	NCBI36
NG_012304.2:g.10872G>A
NG_053116.1:g.12002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1187G>A (EFEMP2) MANE Select	ENSP00000309953.6:p.Ser396Asn
ENST00000307998.10:c.1187G>A (EFEMP2)	ENSP00000309953.6:p.Ser396Asn
ENST00000524408.1:c.63G>A (EFEMP2)
ENST00000525006.1:n.38-194C>T (MUS81)
ENST00000526628.5:n.1753G>A (EFEMP2)
ENST00000526911.1:c.164G>A (EFEMP2)	ENSP00000436536.1:p.Ser55Asn
ENST00000527277.5:c.18G>A (EFEMP2)
ENST00000528176.5:c.1171-351G>A (EFEMP2)	ENSP00000434151.1:n.1171-351G>A
ENST00000528409.1:n.420G>A (EFEMP2)
ENST00000530806.5:c.146G>A (EFEMP2)	ENSP00000436526.1:p.Ser49Asn
ENST00000531645.5:c.319-129G>A (EFEMP2)	ENSP00000436521.1:n.319-129G>A
ENST00000531972.5:c.1187G>A (EFEMP2)	ENSP00000435295.1:p.Ser396Asn
ENST00000532648.1:n.42G>A (EFEMP2)
NM_016938.4:c.1187G>A (EFEMP2)	NP_058634.4:p.Ser396Asn
NR_037718.1:n.1446G>A (EFEMP2)
NR_146598.1:n.1845-194C>T (MUS81)
NM_016938.5:c.1187G>A (EFEMP2) MANE Select	NP_058634.4:p.Ser396Asn
NR_037718.2:n.1312G>A (EFEMP2)
NR_146598.2:n.1813-194C>T (MUS81)