Canonical Allele Identifier: CA600230053

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1445281466
• gnomAD v2: 11-65638782-GC-G
• gnomAD v4: 11-65871311-GC-G
• MyVariant Identifiers: chr11:g.65638783del (hg19) ; chr11:g.65871312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871312del , CM000673.2:g.65871312del	GRCh38
NC_000011.9:g.65638783del , CM000673.1:g.65638783del	GRCh37
NC_000011.8:g.65395359del	NCBI36
NG_012304.2:g.6623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.212del MANE Select	ENSP00000309953.6:p.Cys71SerfsTer?
ENST00000307998.10:c.212del	ENSP00000309953.6:p.Cys71SerfsTer?
ENST00000526624.5:c.212del	ENSP00000435419.1:p.Cys71SerfsTer?
ENST00000527378.1:c.212del	ENSP00000435963.1:p.Cys71SerfsTer?
ENST00000528176.5:c.212del	ENSP00000434151.1:p.Cys71SerfsTer?
ENST00000530850.1:c.*24del	ENSP00000437238.1:n.*24del
ENST00000531005.5:n.708del
ENST00000531972.5:c.212del	ENSP00000435295.1:p.Cys71SerfsTer?
ENST00000533347.5:c.*24del	ENSP00000435823.1:n.*24del
NM_016938.4:c.212del	NP_058634.4:p.Cys71SerfsTer?
NR_037718.1:n.471del
NM_016938.5:c.212del MANE Select	NP_058634.4:p.Cys71SerfsTer?
NR_037718.2:n.337del