Canonical Allele Identifier: CA2499221178

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1070589
• ClinVar RCV Id: RCV001382781
• dbSNP Id: rs2134747667

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868319_65868352dup , CM000673.2:g.65868319_65868352dup	GRCh38
NC_000011.9:g.65635790_65635823dup , CM000673.1:g.65635790_65635823dup	GRCh37
NC_000011.8:g.65392366_65392399dup	NCBI36
NG_012304.2:g.9585_9618dup
NG_053116.1:g.13258_13291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.919_952dup MANE Select	ENSP00000309953.6:p.Pro318LeufsTer18
ENST00000307998.10:c.919_952dup	ENSP00000309953.6:p.Pro318LeufsTer18
ENST00000525392.1:n.80_113dup
ENST00000526628.5:n.1485_1518dup
ENST00000528176.5:c.919_952dup	ENSP00000434151.1:p.Pro318LeufsTer18
ENST00000528409.1:n.163_196dup
ENST00000530806.5:c.-80_-47dup	ENSP00000436526.1:n.-80_-47dup
ENST00000531005.5:n.1913_1946dup
ENST00000531645.5:c.67_100dup	ENSP00000436521.1:p.Pro34LeufsTer18
ENST00000531972.5:c.919_952dup	ENSP00000435295.1:p.Pro318LeufsTer18
ENST00000532084.5:n.345_378dup
NM_016938.4:c.919_952dup	NP_058634.4:p.Pro318LeufsTer18
NR_037718.1:n.1178_1211dup
NM_016938.5:c.919_952dup MANE Select	NP_058634.4:p.Pro318LeufsTer18
NR_037718.2:n.1044_1077dup