Canonical Allele Identifier: CA475316616

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868327-G-A
• MyVariant Identifiers: chr11:g.65635798G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868327G>A , CM000673.2:g.65868327G>A	GRCh38
NC_000011.9:g.65635798G>A , CM000673.1:g.65635798G>A	GRCh37
NC_000011.8:g.65392374G>A	NCBI36
NG_012304.2:g.9608C>T
NG_053116.1:g.13266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.942C>T MANE Select	ENSP00000309953.6:p.Arg314=
ENST00000307998.10:c.942C>T	ENSP00000309953.6:p.Arg314=
ENST00000525392.1:n.103C>T
ENST00000526628.5:n.1508C>T
ENST00000528176.5:c.942C>T	ENSP00000434151.1:p.Arg314=
ENST00000528409.1:n.186C>T
ENST00000530806.5:c.-57C>T	ENSP00000436526.1:n.-57C>T
ENST00000531005.5:n.1936C>T
ENST00000531645.5:c.90C>T	ENSP00000436521.1:p.Arg30=
ENST00000531972.5:c.942C>T	ENSP00000435295.1:p.Arg314=
ENST00000532084.5:n.368C>T
NM_016938.4:c.942C>T	NP_058634.4:p.Arg314=
NR_037718.1:n.1201C>T
NM_016938.5:c.942C>T MANE Select	NP_058634.4:p.Arg314=
NR_037718.2:n.1067C>T