Canonical Allele Identifier: CA281916

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 39012
• ClinVar RCV Id: RCV000032270 ; RCV000033126
• dbSNP Id: rs193302869
• gnomAD v4: 11-65870649-T-A
• MyVariant Identifiers: chr11:g.65638120T>A (hg19) ; chr11:g.65870649T>A (hg38)
• PubMed: PMID:20389311 ; PMID:21563328

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65870649T>A , CM000673.2:g.65870649T>A	GRCh38
NC_000011.9:g.65638120T>A , CM000673.1:g.65638120T>A	GRCh37
NC_000011.8:g.65394696T>A	NCBI36
NG_012304.2:g.7286A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.377A>T MANE Select	ENSP00000309953.6:p.Glu126Val
ENST00000307998.10:c.377A>T	ENSP00000309953.6:p.Glu126Val
ENST00000526624.5:c.377A>T	ENSP00000435419.1:p.Glu126Val
ENST00000527378.1:c.377A>T	ENSP00000435963.1:p.Glu126Val
ENST00000527969.1:n.56A>T
ENST00000528176.5:c.377A>T	ENSP00000434151.1:p.Glu126Val
ENST00000530850.1:c.*189A>T	ENSP00000437238.1:n.*189A>T
ENST00000531005.5:n.1371A>T
ENST00000531972.5:c.377A>T	ENSP00000435295.1:p.Glu126Val
ENST00000533347.5:c.*189A>T	ENSP00000435823.1:n.*189A>T
NM_016938.4:c.377A>T	NP_058634.4:p.Glu126Val
NR_037718.1:n.636A>T
NM_016938.5:c.377A>T MANE Select	NP_058634.4:p.Glu126Val
NR_037718.2:n.502A>T