Canonical Allele Identifier: CA475316791

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 3022502
• ClinVar RCV Id: RCV003881581
• dbSNP Id: rs1565273163
• gnomAD v4: 11-65868565-A-G
• MyVariant Identifiers: chr11:g.65636036A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868565A>G , CM000673.2:g.65868565A>G	GRCh38
NC_000011.9:g.65636036A>G , CM000673.1:g.65636036A>G	GRCh37
NC_000011.8:g.65392612A>G	NCBI36
NG_012304.2:g.9370T>C
NG_053116.1:g.13504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.792T>C MANE Select	ENSP00000309953.6:p.Arg264=
ENST00000307998.10:c.792T>C	ENSP00000309953.6:p.Arg264=
ENST00000526628.5:n.1358T>C
ENST00000527969.1:n.1477T>C
ENST00000528176.5:c.792T>C	ENSP00000434151.1:p.Arg264=
ENST00000531005.5:n.1786T>C
ENST00000531972.5:c.792T>C	ENSP00000435295.1:p.Arg264=
ENST00000532084.5:n.218T>C
NM_016938.4:c.792T>C	NP_058634.4:p.Arg264=
NR_037718.1:n.1051T>C
NM_016938.5:c.792T>C MANE Select	NP_058634.4:p.Arg264=
NR_037718.2:n.917T>C