Canonical Allele Identifier: CA6110517

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1594882
• ClinVar RCV Id: RCV002108163
• dbSNP Id: rs762497696
• ExAC: 11:65635968 G / A
• gnomAD v2: 11-65635968-G-A
• gnomAD v3: 11-65868497-G-A
• gnomAD v4: 11-65868497-G-A
• MyVariant Identifiers: chr11:g.65635968G>A (hg19) ; chr11:g.65868497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868497G>A , CM000673.2:g.65868497G>A	GRCh38
NC_000011.9:g.65635968G>A , CM000673.1:g.65635968G>A	GRCh37
NC_000011.8:g.65392544G>A	NCBI36
NG_012304.2:g.9438C>T
NG_053116.1:g.13436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+13C>T MANE Select	ENSP00000309953.6:n.847+13C>T
ENST00000307998.10:c.847+13C>T	ENSP00000309953.6:n.847+13C>T
ENST00000526628.5:n.1413+13C>T
ENST00000527969.1:n.1545C>T
ENST00000528176.5:c.847+13C>T	ENSP00000434151.1:n.847+13C>T
ENST00000528409.1:n.16C>T
ENST00000530806.5:c.-152+13C>T	ENSP00000436526.1:n.-152+13C>T
ENST00000531005.5:n.1841+13C>T
ENST00000531972.5:c.847+13C>T	ENSP00000435295.1:n.847+13C>T
ENST00000532084.5:n.273+13C>T
NM_016938.4:c.847+13C>T	NP_058634.4:n.847+13C>T
NR_037718.1:n.1106+13C>T
NM_016938.5:c.847+13C>T MANE Select	NP_058634.4:n.847+13C>T
NR_037718.2:n.972+13C>T