Canonical Allele Identifier: CA6110479

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1209891
• ClinVar RCV Id: RCV001579401 ; RCV002370222 ; RCV003771761
• dbSNP Id: rs754497556
• ExAC: 11:65635801 G / A
• gnomAD v2: 11-65635801-G-A
• gnomAD v4: 11-65868330-G-A
• MyVariant Identifiers: chr11:g.65635801G>A (hg19) ; chr11:g.65868330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868330G>A , CM000673.2:g.65868330G>A	GRCh38
NC_000011.9:g.65635801G>A , CM000673.1:g.65635801G>A	GRCh37
NC_000011.8:g.65392377G>A	NCBI36
NG_012304.2:g.9605C>T
NG_053116.1:g.13269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.939C>T MANE Select	ENSP00000309953.6:p.Asn313=
ENST00000307998.10:c.939C>T	ENSP00000309953.6:p.Asn313=
ENST00000525392.1:n.100C>T
ENST00000526628.5:n.1505C>T
ENST00000528176.5:c.939C>T	ENSP00000434151.1:p.Asn313=
ENST00000528409.1:n.183C>T
ENST00000530806.5:c.-60C>T	ENSP00000436526.1:n.-60C>T
ENST00000531005.5:n.1933C>T
ENST00000531645.5:c.87C>T	ENSP00000436521.1:p.Asn29=
ENST00000531972.5:c.939C>T	ENSP00000435295.1:p.Asn313=
ENST00000532084.5:n.365C>T
NM_016938.4:c.939C>T	NP_058634.4:p.Asn313=
NR_037718.1:n.1198C>T
NM_016938.5:c.939C>T MANE Select	NP_058634.4:p.Asn313=
NR_037718.2:n.1064C>T