Canonical Allele Identifier: CA281914

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 39011
• ClinVar RCV Id: RCV000032269 ; RCV000033125 ; RCV000724423
• dbSNP Id: rs193302867
• gnomAD v2: 11-65638121-C-T
• gnomAD v3: 11-65870650-C-T
• gnomAD v4: 11-65870650-C-T
• COSMIC: COSM6304177
• MyVariant Identifiers: chr11:g.65638121C>T (hg19) ; chr11:g.65870650C>T (hg38)
• PubMed: PMID:8985490 ; PMID:20389311 ; PMID:21563328 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870650C>T , CM000673.2:g.65870650C>T	GRCh38
NC_000011.9:g.65638121C>T , CM000673.1:g.65638121C>T	GRCh37
NC_000011.8:g.65394697C>T	NCBI36
NG_012304.2:g.7285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.376G>A MANE Select	ENSP00000309953.6:p.Glu126Lys
ENST00000307998.10:c.376G>A	ENSP00000309953.6:p.Glu126Lys
ENST00000526624.5:c.376G>A	ENSP00000435419.1:p.Glu126Lys
ENST00000527378.1:c.376G>A	ENSP00000435963.1:p.Glu126Lys
ENST00000527969.1:n.55G>A
ENST00000528176.5:c.376G>A	ENSP00000434151.1:p.Glu126Lys
ENST00000530850.1:c.*188G>A	ENSP00000437238.1:n.*188G>A
ENST00000531005.5:n.1370G>A
ENST00000531972.5:c.376G>A	ENSP00000435295.1:p.Glu126Lys
ENST00000533347.5:c.*188G>A	ENSP00000435823.1:n.*188G>A
NM_016938.4:c.376G>A	NP_058634.4:p.Glu126Lys
NR_037718.1:n.635G>A
NM_016938.5:c.376G>A MANE Select	NP_058634.4:p.Glu126Lys
NR_037718.2:n.501G>A