Canonical Allele Identifier: CA1979443813

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1859899591

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868332_65868349del , CM000673.2:g.65868332_65868349del	GRCh38
NC_000011.9:g.65635803_65635820del , CM000673.1:g.65635803_65635820del	GRCh37
NC_000011.8:g.65392379_65392396del	NCBI36
NG_012304.2:g.9599_9616del
NG_053116.1:g.13271_13288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.933_950del MANE Select	ENSP00000309953.6:p.Asp311_Val316del
ENST00000307998.10:c.933_950del	ENSP00000309953.6:p.Asp311_Val316del
ENST00000525392.1:n.94_111del
ENST00000526628.5:n.1499_1516del
ENST00000528176.5:c.933_950del	ENSP00000434151.1:p.Asp311_Val316del
ENST00000528409.1:n.177_194del
ENST00000530806.5:c.-66_-49del	ENSP00000436526.1:n.-66_-49del
ENST00000531005.5:n.1927_1944del
ENST00000531645.5:c.81_98del	ENSP00000436521.1:p.Asp27_Val32del
ENST00000531972.5:c.933_950del	ENSP00000435295.1:p.Asp311_Val316del
ENST00000532084.5:n.359_376del
NM_016938.4:c.933_950del	NP_058634.4:p.Asp311_Val316del
NR_037718.1:n.1192_1209del
NM_016938.5:c.933_950del MANE Select	NP_058634.4:p.Asp311_Val316del
NR_037718.2:n.1058_1075del