Canonical Allele Identifier: CA600230065

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1382119098
• gnomAD v2: 11-65638826-CGTT-C
• gnomAD v4: 11-65871355-CGTT-C
• MyVariant Identifiers: chr11:g.65638827_65638829del (hg19) ; chr11:g.65871356_65871358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871357_65871359del , CM000673.2:g.65871357_65871359del	GRCh38
NC_000011.9:g.65638828_65638830del , CM000673.1:g.65638828_65638830del	GRCh37
NC_000011.8:g.65395404_65395406del	NCBI36
NG_012304.2:g.6577_6579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.166_168del MANE Select	ENSP00000309953.6:p.Asn56del
ENST00000307998.10:c.166_168del	ENSP00000309953.6:p.Asn56del
ENST00000526624.5:c.166_168del	ENSP00000435419.1:p.Asn56del
ENST00000527378.1:c.166_168del	ENSP00000435963.1:p.Asn56del
ENST00000528176.5:c.166_168del	ENSP00000434151.1:p.Asn56del
ENST00000530850.1:c.155_157del	ENSP00000437238.1:p.Gln52del
ENST00000531005.5:n.662_664del
ENST00000531972.5:c.166_168del	ENSP00000435295.1:p.Asn56del
ENST00000533347.5:c.212_214del	ENSP00000435823.1:p.Gln71del
NM_016938.4:c.166_168del	NP_058634.4:p.Asn56del
NR_037718.1:n.425_427del
NM_016938.5:c.166_168del MANE Select	NP_058634.4:p.Asn56del
NR_037718.2:n.291_293del