Canonical Allele Identifier: CA475316795

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868568-G-A
• MyVariant Identifiers: chr11:g.65636039G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868568G>A , CM000673.2:g.65868568G>A	GRCh38
NC_000011.9:g.65636039G>A , CM000673.1:g.65636039G>A	GRCh37
NC_000011.8:g.65392615G>A	NCBI36
NG_012304.2:g.9367C>T
NG_053116.1:g.13507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.789C>T MANE Select	ENSP00000309953.6:p.Gly263=
ENST00000307998.10:c.789C>T	ENSP00000309953.6:p.Gly263=
ENST00000526628.5:n.1355C>T
ENST00000527969.1:n.1474C>T
ENST00000528176.5:c.789C>T	ENSP00000434151.1:p.Gly263=
ENST00000531005.5:n.1783C>T
ENST00000531972.5:c.789C>T	ENSP00000435295.1:p.Gly263=
ENST00000532084.5:n.215C>T
NM_016938.4:c.789C>T	NP_058634.4:p.Gly263=
NR_037718.1:n.1048C>T
NM_016938.5:c.789C>T MANE Select	NP_058634.4:p.Gly263=
NR_037718.2:n.914C>T