Canonical Allele Identifier: CA281918

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 39009
• ClinVar RCV Id: RCV000032266 ; RCV000033128
• dbSNP Id: rs193302868
• gnomAD v4: 11-65867061-C-T
• MyVariant Identifiers: chr11:g.65634532C>T (hg19) ; chr11:g.65867061C>T (hg38)
• PubMed: PMID:15776121 ; PMID:20389311 ; PMID:21563328

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867061C>T , CM000673.2:g.65867061C>T	GRCh38
NC_000011.9:g.65634532C>T , CM000673.1:g.65634532C>T	GRCh37
NC_000011.8:g.65391108C>T	NCBI36
NG_012304.2:g.10874G>A
NG_053116.1:g.12000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.1189G>A (EFEMP2) MANE Select	ENSP00000309953.6:p.Ala397Thr
ENST00000307998.10:c.1189G>A (EFEMP2)	ENSP00000309953.6:p.Ala397Thr
ENST00000524408.1:c.65G>A (EFEMP2)
ENST00000525006.1:n.38-196C>T (MUS81)
ENST00000526628.5:n.1755G>A (EFEMP2)
ENST00000526911.1:c.166G>A (EFEMP2)	ENSP00000436536.1:p.Ala56Thr
ENST00000527277.5:c.20G>A (EFEMP2)
ENST00000528176.5:c.1171-349G>A (EFEMP2)	ENSP00000434151.1:n.1171-349G>A
ENST00000528409.1:n.422G>A (EFEMP2)
ENST00000530806.5:c.148G>A (EFEMP2)	ENSP00000436526.1:p.Ala50Thr
ENST00000531645.5:c.319-127G>A (EFEMP2)	ENSP00000436521.1:n.319-127G>A
ENST00000531972.5:c.1189G>A (EFEMP2)	ENSP00000435295.1:p.Ala397Thr
ENST00000532648.1:n.44G>A (EFEMP2)
NM_016938.4:c.1189G>A (EFEMP2)	NP_058634.4:p.Ala397Thr
NR_037718.1:n.1448G>A (EFEMP2)
NR_146598.1:n.1845-196C>T (MUS81)
NM_016938.5:c.1189G>A (EFEMP2) MANE Select	NP_058634.4:p.Ala397Thr
NR_037718.2:n.1314G>A (EFEMP2)
NR_146598.2:n.1813-196C>T (MUS81)