Canonical Allele Identifier: CA6110735

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 650013
• ClinVar RCV Id: RCV000805082 ; RCV001592999 ; RCV002424870
• dbSNP Id: rs149525720
• ExAC: 11:65638736 C / T
• gnomAD v2: 11-65638736-C-T
• gnomAD v3: 11-65871265-C-T
• gnomAD v4: 11-65871265-C-T
• COSMIC: COSM1356090
• MyVariant Identifiers: chr11:g.65638736C>T (hg19) ; chr11:g.65871265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871265C>T , CM000673.2:g.65871265C>T	GRCh38
NC_000011.9:g.65638736C>T , CM000673.1:g.65638736C>T	GRCh37
NC_000011.8:g.65395312C>T	NCBI36
NG_012304.2:g.6670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.259G>A MANE Select	ENSP00000309953.6:p.Val87Ile
ENST00000307998.10:c.259G>A	ENSP00000309953.6:p.Val87Ile
ENST00000526624.5:c.259G>A	ENSP00000435419.1:p.Val87Ile
ENST00000527378.1:c.259G>A	ENSP00000435963.1:p.Val87Ile
ENST00000528176.5:c.259G>A	ENSP00000434151.1:p.Val87Ile
ENST00000530850.1:c.*71G>A	ENSP00000437238.1:n.*71G>A
ENST00000531005.5:n.755G>A
ENST00000531972.5:c.259G>A	ENSP00000435295.1:p.Val87Ile
ENST00000533347.5:c.*71G>A	ENSP00000435823.1:n.*71G>A
NM_016938.4:c.259G>A	NP_058634.4:p.Val87Ile
NR_037718.1:n.518G>A
NM_016938.5:c.259G>A MANE Select	NP_058634.4:p.Val87Ile
NR_037718.2:n.384G>A