Canonical Allele Identifier: CA16619373

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 423870
• ClinVar RCV Id: RCV000485615
• dbSNP Id: rs1064796673
• MyVariant Identifiers: chr11:g.65635802T>A (hg19) ; chr11:g.65868331T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868331T>A , CM000673.2:g.65868331T>A	GRCh38
NC_000011.9:g.65635802T>A , CM000673.1:g.65635802T>A	GRCh37
NC_000011.8:g.65392378T>A	NCBI36
NG_012304.2:g.9604A>T
NG_053116.1:g.13270T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.938A>T MANE Select	ENSP00000309953.6:p.Asn313Ile
ENST00000307998.10:c.938A>T	ENSP00000309953.6:p.Asn313Ile
ENST00000525392.1:n.99A>T
ENST00000526628.5:n.1504A>T
ENST00000528176.5:c.938A>T	ENSP00000434151.1:p.Asn313Ile
ENST00000528409.1:n.182A>T
ENST00000530806.5:c.-61A>T	ENSP00000436526.1:n.-61A>T
ENST00000531005.5:n.1932A>T
ENST00000531645.5:c.86A>T	ENSP00000436521.1:p.Asn29Ile
ENST00000531972.5:c.938A>T	ENSP00000435295.1:p.Asn313Ile
ENST00000532084.5:n.364A>T
NM_016938.4:c.938A>T	NP_058634.4:p.Asn313Ile
NR_037718.1:n.1197A>T
NM_016938.5:c.938A>T MANE Select	NP_058634.4:p.Asn313Ile
NR_037718.2:n.1063A>T