Canonical Allele Identifier: CA281558

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 5423
• ClinVar RCV Id: RCV000005756 ; RCV000032268
• dbSNP Id: rs119489101
• ExAC: 11:65638826 C / T
• gnomAD v4: 11-65871355-C-T
• MyVariant Identifiers: chr11:g.65638826C>T (hg19) ; chr11:g.65871355C>T (hg38)
• PubMed: PMID:16685658 ; PMID:21563328

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871355C>T , CM000673.2:g.65871355C>T	GRCh38
NC_000011.9:g.65638826C>T , CM000673.1:g.65638826C>T	GRCh37
NC_000011.8:g.65395402C>T	NCBI36
NG_012304.2:g.6580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.169G>A MANE Select	ENSP00000309953.6:p.Glu57Lys
ENST00000307998.10:c.169G>A	ENSP00000309953.6:p.Glu57Lys
ENST00000526624.5:c.169G>A	ENSP00000435419.1:p.Glu57Lys
ENST00000527378.1:c.169G>A	ENSP00000435963.1:p.Glu57Lys
ENST00000528176.5:c.169G>A	ENSP00000434151.1:p.Glu57Lys
ENST00000530850.1:c.158G>A	ENSP00000437238.1:p.Arg53Gln
ENST00000531005.5:n.665G>A
ENST00000531972.5:c.169G>A	ENSP00000435295.1:p.Glu57Lys
ENST00000533347.5:c.215G>A	ENSP00000435823.1:p.Arg72Gln
NM_016938.4:c.169G>A	NP_058634.4:p.Glu57Lys
NR_037718.1:n.428G>A
NM_016938.5:c.169G>A MANE Select	NP_058634.4:p.Glu57Lys
NR_037718.2:n.294G>A