Canonical Allele Identifier: CA2792462171

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868620_65868621del , CM000673.2:g.65868620_65868621del	GRCh38
NC_000011.9:g.65636091_65636092del , CM000673.1:g.65636091_65636092del	GRCh37
NC_000011.8:g.65392667_65392668del	NCBI36
NG_012304.2:g.9315_9316del
NG_053116.1:g.13559_13560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.737_738del MANE Select	ENSP00000309953.6:p.Glu246ValfsTer2
ENST00000307998.10:c.737_738del	ENSP00000309953.6:p.Glu246ValfsTer2
ENST00000526628.5:n.1303_1304del
ENST00000527969.1:n.1422_1423del
ENST00000528176.5:c.737_738del	ENSP00000434151.1:p.Glu246ValfsTer2
ENST00000531005.5:n.1731_1732del
ENST00000531972.5:c.737_738del	ENSP00000435295.1:p.Glu246ValfsTer2
ENST00000532084.5:n.163_164del
NM_016938.4:c.737_738del	NP_058634.4:p.Glu246ValfsTer2
NR_037718.1:n.996_997del
NM_016938.5:c.737_738del MANE Select	NP_058634.4:p.Glu246ValfsTer2
NR_037718.2:n.862_863del