Canonical Allele Identifier: CA223978520

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 472816
• ClinVar RCV Id: RCV000546981 ; RCV002431686
• dbSNP Id: rs148604051
• gnomAD v4: 11-65871271-C-T
• COSMIC: COSM3718425
• MyVariant Identifiers: chr11:g.65638742C>T (hg19) ; chr11:g.65871271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871271C>T , CM000673.2:g.65871271C>T	GRCh38
NC_000011.9:g.65638742C>T , CM000673.1:g.65638742C>T	GRCh37
NC_000011.8:g.65395318C>T	NCBI36
NG_012304.2:g.6664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.253G>A MANE Select	ENSP00000309953.6:p.Ala85Thr
ENST00000307998.10:c.253G>A	ENSP00000309953.6:p.Ala85Thr
ENST00000526624.5:c.253G>A	ENSP00000435419.1:p.Ala85Thr
ENST00000527378.1:c.253G>A	ENSP00000435963.1:p.Ala85Thr
ENST00000528176.5:c.253G>A	ENSP00000434151.1:p.Ala85Thr
ENST00000530850.1:c.*65G>A	ENSP00000437238.1:n.*65G>A
ENST00000531005.5:n.749G>A
ENST00000531972.5:c.253G>A	ENSP00000435295.1:p.Ala85Thr
ENST00000533347.5:c.*65G>A	ENSP00000435823.1:n.*65G>A
NM_016938.4:c.253G>A	NP_058634.4:p.Ala85Thr
NR_037718.1:n.512G>A
NM_016938.5:c.253G>A MANE Select	NP_058634.4:p.Ala85Thr
NR_037718.2:n.378G>A