Canonical Allele Identifier: CA6110330

Gene: EFEMP2 MUS81

Linked Data

• ClinVar Variation Id: 305375
• ClinVar RCV Id: RCV000312066 ; RCV001560637
• dbSNP Id: rs187686630
• ExAC: 11:65634274 C / T
• gnomAD v2: 11-65634274-C-T
• gnomAD v3: 11-65866803-C-T
• gnomAD v4: 11-65866803-C-T
• MyVariant Identifiers: chr11:g.65634274C>T (hg19) ; chr11:g.65866803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65866803C>T , CM000673.2:g.65866803C>T	GRCh38
NC_000011.9:g.65634274C>T , CM000673.1:g.65634274C>T	GRCh37
NC_000011.8:g.65390850C>T	NCBI36
NG_012304.2:g.11132G>A
NG_053116.1:g.11742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.*115G>A (EFEMP2) MANE Select	ENSP00000309953.6:n.*115G>A
ENST00000307998.10:c.*115G>A (EFEMP2)	ENSP00000309953.6:n.*115G>A
ENST00000524408.1:c.260+63G>A (EFEMP2)
ENST00000525006.1:n.38-454C>T (MUS81)
ENST00000526628.5:n.2006+7G>A (EFEMP2)
ENST00000526911.1:c.207-91G>A (EFEMP2)	ENSP00000436536.1:n.207-91G>A
ENST00000527277.5:c.271+7G>A (EFEMP2)
ENST00000528176.5:c.1171-91G>A (EFEMP2)	ENSP00000434151.1:n.1171-91G>A
ENST00000531645.5:c.408+42G>A (EFEMP2)	ENSP00000436521.1:n.408+42G>A
ENST00000531972.5:c.*73+42G>A (EFEMP2)	ENSP00000435295.1:n.*73+42G>A
ENST00000532648.1:n.260+42G>A (EFEMP2)
NM_016938.4:c.*115G>A (EFEMP2)	NP_058634.4:n.*115G>A
NR_037718.1:n.1664+42G>A (EFEMP2)
NR_146598.1:n.1845-454C>T (MUS81)
NM_016938.5:c.*115G>A (EFEMP2) MANE Select	NP_058634.4:n.*115G>A
NR_037718.2:n.1530+42G>A (EFEMP2)
NR_146598.2:n.1813-454C>T (MUS81)