Canonical Allele Identifier: CA475316915

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1758376
• ClinVar RCV Id: RCV002380172
• dbSNP Id: rs1859908323
• gnomAD v4: 11-65868625-A-G
• MyVariant Identifiers: chr11:g.65636096A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868625A>G , CM000673.2:g.65868625A>G	GRCh38
NC_000011.9:g.65636096A>G , CM000673.1:g.65636096A>G	GRCh37
NC_000011.8:g.65392672A>G	NCBI36
NG_012304.2:g.9310T>C
NG_053116.1:g.13564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.732T>C MANE Select	ENSP00000309953.6:p.Ile244=
ENST00000307998.10:c.732T>C	ENSP00000309953.6:p.Ile244=
ENST00000526628.5:n.1298T>C
ENST00000527969.1:n.1417T>C
ENST00000528176.5:c.732T>C	ENSP00000434151.1:p.Ile244=
ENST00000531005.5:n.1726T>C
ENST00000531972.5:c.732T>C	ENSP00000435295.1:p.Ile244=
ENST00000532084.5:n.158T>C
NM_016938.4:c.732T>C	NP_058634.4:p.Ile244=
NR_037718.1:n.991T>C
NM_016938.5:c.732T>C MANE Select	NP_058634.4:p.Ile244=
NR_037718.2:n.857T>C