Canonical Allele Identifier: CA1979443810

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 2061583
• ClinVar RCV Id: RCV002942840
• dbSNP Id: rs1859899591

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868332_65868349dup , CM000673.2:g.65868332_65868349dup	GRCh38
NC_000011.9:g.65635803_65635820dup , CM000673.1:g.65635803_65635820dup	GRCh37
NC_000011.8:g.65392379_65392396dup	NCBI36
NG_012304.2:g.9599_9616dup
NG_053116.1:g.13271_13288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.933_950dup MANE Select	ENSP00000309953.6:p.Val316_Glu317insAspThrAsnArgCysVal
ENST00000307998.10:c.933_950dup	ENSP00000309953.6:p.Val316_Glu317insAspThrAsnArgCysVal
ENST00000525392.1:n.94_111dup
ENST00000526628.5:n.1499_1516dup
ENST00000528176.5:c.933_950dup	ENSP00000434151.1:p.Val316_Glu317insAspThrAsnArgCysVal
ENST00000528409.1:n.177_194dup
ENST00000530806.5:c.-66_-49dup	ENSP00000436526.1:n.-66_-49dup
ENST00000531005.5:n.1927_1944dup
ENST00000531645.5:c.81_98dup	ENSP00000436521.1:p.Val32_Glu33insAspThrAsnArgCysVal
ENST00000531972.5:c.933_950dup	ENSP00000435295.1:p.Val316_Glu317insAspThrAsnArgCysVal
ENST00000532084.5:n.359_376dup
NM_016938.4:c.933_950dup	NP_058634.4:p.Val316_Glu317insAspThrAsnArgCysVal
NR_037718.1:n.1192_1209dup
NM_016938.5:c.933_950dup MANE Select	NP_058634.4:p.Val316_Glu317insAspThrAsnArgCysVal
NR_037718.2:n.1058_1075dup