Canonical Allele Identifier: CA6110375

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 540027
• ClinVar RCV Id: RCV002334188
• dbSNP Id: rs543567156
• ExAC: 11:65634538 C / T
• gnomAD v2: 11-65634538-C-T
• gnomAD v3: 11-65867067-C-T
• gnomAD v4: 11-65867067-C-T
• MyVariant Identifiers: chr11:g.65634538C>T (hg19) ; chr11:g.65634538_65634541delinsTGTT (hg19) ; chr11:g.65867067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867067C>T , CM000673.2:g.65867067C>T	GRCh38
NC_000011.9:g.65634538C>T , CM000673.1:g.65634538C>T	GRCh37
NC_000011.8:g.65391114C>T	NCBI36
NG_012304.2:g.10868G>A
NG_053116.1:g.12006C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1183G>A (EFEMP2) MANE Select	ENSP00000309953.6:p.Val395Ile
ENST00000307998.10:c.1183G>A (EFEMP2)	ENSP00000309953.6:p.Val395Ile
ENST00000524408.1:c.59G>A (EFEMP2)
ENST00000525006.1:n.38-190C>T (MUS81)
ENST00000526628.5:n.1749G>A (EFEMP2)
ENST00000526911.1:c.160G>A (EFEMP2)	ENSP00000436536.1:p.Val54Ile
ENST00000527277.5:c.14G>A (EFEMP2)
ENST00000528176.5:c.1171-355G>A (EFEMP2)	ENSP00000434151.1:n.1171-355G>A
ENST00000528409.1:n.416G>A (EFEMP2)
ENST00000530806.5:c.142G>A (EFEMP2)	ENSP00000436526.1:p.Val48Ile
ENST00000531645.5:c.319-133G>A (EFEMP2)	ENSP00000436521.1:n.319-133G>A
ENST00000531972.5:c.1183G>A (EFEMP2)	ENSP00000435295.1:p.Val395Ile
ENST00000532648.1:n.38G>A (EFEMP2)
NM_016938.4:c.1183G>A (EFEMP2)	NP_058634.4:p.Val395Ile
NR_037718.1:n.1442G>A (EFEMP2)
NR_146598.1:n.1845-190C>T (MUS81)
NM_016938.5:c.1183G>A (EFEMP2) MANE Select	NP_058634.4:p.Val395Ile
NR_037718.2:n.1308G>A (EFEMP2)
NR_146598.2:n.1813-190C>T (MUS81)