Canonical Allele Identifier: CA1979444313

Gene: EFEMP2

Linked Data

• dbSNP Id: rs765815867
• gnomAD v3: 11-65868448-CG-C
• gnomAD v4: 11-65868448-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868453del , CM000673.2:g.65868453del	GRCh38
NC_000011.9:g.65635924del , CM000673.1:g.65635924del	GRCh37
NC_000011.8:g.65392500del	NCBI36
NG_012304.2:g.9486del
NG_053116.1:g.13392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-28del MANE Select	ENSP00000309953.6:n.848-28del
ENST00000307998.10:c.848-28del	ENSP00000309953.6:n.848-28del
ENST00000526628.5:n.1414-28del
ENST00000528176.5:c.848-28del	ENSP00000434151.1:n.848-28del
ENST00000528409.1:n.64del
ENST00000530806.5:c.-151-28del	ENSP00000436526.1:n.-151-28del
ENST00000531005.5:n.1842-28del
ENST00000531972.5:c.848-28del	ENSP00000435295.1:n.848-28del
ENST00000532084.5:n.274-28del
NM_016938.4:c.848-28del	NP_058634.4:n.848-28del
NR_037718.1:n.1107-28del
NM_016938.5:c.848-28del MANE Select	NP_058634.4:n.848-28del
NR_037718.2:n.973-28del