Canonical Allele Identifier: CA224016576

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 949746
• ClinVar RCV Id: RCV001221280 ; RCV002379835
• dbSNP Id: rs1056545955
• gnomAD v2: 11-65634442-G-A
• gnomAD v3: 11-65866971-G-A
• gnomAD v4: 11-65866971-G-A
• MyVariant Identifiers: chr11:g.65634442G>A (hg19) ; chr11:g.65866971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866971G>A , CM000673.2:g.65866971G>A	GRCh38
NC_000011.9:g.65634442G>A , CM000673.1:g.65634442G>A	GRCh37
NC_000011.8:g.65391018G>A	NCBI36
NG_012304.2:g.10964C>T
NG_053116.1:g.11910G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1279C>T (EFEMP2) MANE Select	ENSP00000309953.6:p.Arg427Trp
ENST00000307998.10:c.1279C>T (EFEMP2)	ENSP00000309953.6:p.Arg427Trp
ENST00000524408.1:c.155C>T (EFEMP2)
ENST00000525006.1:n.38-286G>A (MUS81)
ENST00000526628.5:n.1845C>T (EFEMP2)
ENST00000526911.1:c.206+50C>T (EFEMP2)	ENSP00000436536.1:n.206+50C>T
ENST00000527277.5:c.110C>T (EFEMP2)
ENST00000528176.5:c.1171-259C>T (EFEMP2)	ENSP00000434151.1:n.1171-259C>T
ENST00000528409.1:n.512C>T (EFEMP2)
ENST00000531645.5:c.319-37C>T (EFEMP2)	ENSP00000436521.1:n.319-37C>T
ENST00000531972.5:c.1279C>T (EFEMP2)	ENSP00000435295.1:p.Arg427Trp
ENST00000532648.1:n.134C>T (EFEMP2)
NM_016938.4:c.1279C>T (EFEMP2)	NP_058634.4:p.Arg427Trp
NR_037718.1:n.1538C>T (EFEMP2)
NR_146598.1:n.1845-286G>A (MUS81)
NM_016938.5:c.1279C>T (EFEMP2) MANE Select	NP_058634.4:p.Arg427Trp
NR_037718.2:n.1404C>T (EFEMP2)
NR_146598.2:n.1813-286G>A (MUS81)