Canonical Allele Identifier: CA6110748

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 583249
• ClinVar RCV Id: RCV000707534
• dbSNP Id: rs768570882
• ExAC: 11:65638828 T / C
• gnomAD v2: 11-65638828-T-C
• gnomAD v3: 11-65871357-T-C
• gnomAD v4: 11-65871357-T-C
• MyVariant Identifiers: chr11:g.65638828T>C (hg19) ; chr11:g.65871357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871357T>C , CM000673.2:g.65871357T>C	GRCh38
NC_000011.9:g.65638828T>C , CM000673.1:g.65638828T>C	GRCh37
NC_000011.8:g.65395404T>C	NCBI36
NG_012304.2:g.6578A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.167A>G MANE Select	ENSP00000309953.6:p.Asn56Ser
ENST00000307998.10:c.167A>G	ENSP00000309953.6:p.Asn56Ser
ENST00000526624.5:c.167A>G	ENSP00000435419.1:p.Asn56Ser
ENST00000527378.1:c.167A>G	ENSP00000435963.1:p.Asn56Ser
ENST00000528176.5:c.167A>G	ENSP00000434151.1:p.Asn56Ser
ENST00000530850.1:c.156A>G	ENSP00000437238.1:p.Gln52=
ENST00000531005.5:n.663A>G
ENST00000531972.5:c.167A>G	ENSP00000435295.1:p.Asn56Ser
ENST00000533347.5:c.213A>G	ENSP00000435823.1:p.Gln71=
NM_016938.4:c.167A>G	NP_058634.4:p.Asn56Ser
NR_037718.1:n.426A>G
NM_016938.5:c.167A>G MANE Select	NP_058634.4:p.Asn56Ser
NR_037718.2:n.292A>G