Canonical Allele Identifier: CA6110485

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 506520
• ClinVar RCV Id: RCV000604334 ; RCV002377246 ; RCV002498898
• dbSNP Id: rs766494495
• ExAC: 11:65635813 G / A
• gnomAD v2: 11-65635813-G-A
• gnomAD v3: 11-65868342-G-A
• gnomAD v4: 11-65868342-G-A
• COSMIC: COSM2166581
• MyVariant Identifiers: chr11:g.65635813G>A (hg19) ; chr11:g.65868342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868342G>A , CM000673.2:g.65868342G>A	GRCh38
NC_000011.9:g.65635813G>A , CM000673.1:g.65635813G>A	GRCh37
NC_000011.8:g.65392389G>A	NCBI36
NG_012304.2:g.9593C>T
NG_053116.1:g.13281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.927C>T MANE Select	ENSP00000309953.6:p.Cys309=
ENST00000307998.10:c.927C>T	ENSP00000309953.6:p.Cys309=
ENST00000525392.1:n.88C>T
ENST00000526628.5:n.1493C>T
ENST00000528176.5:c.927C>T	ENSP00000434151.1:p.Cys309=
ENST00000528409.1:n.171C>T
ENST00000530806.5:c.-72C>T	ENSP00000436526.1:n.-72C>T
ENST00000531005.5:n.1921C>T
ENST00000531645.5:c.75C>T	ENSP00000436521.1:p.Cys25=
ENST00000531972.5:c.927C>T	ENSP00000435295.1:p.Cys309=
ENST00000532084.5:n.353C>T
NM_016938.4:c.927C>T	NP_058634.4:p.Cys309=
NR_037718.1:n.1186C>T
NM_016938.5:c.927C>T MANE Select	NP_058634.4:p.Cys309=
NR_037718.2:n.1052C>T