Canonical Allele Identifier: CA475316755

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636006C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868535C>T , CM000673.2:g.65868535C>T	GRCh38
NC_000011.9:g.65636006C>T , CM000673.1:g.65636006C>T	GRCh37
NC_000011.8:g.65392582C>T	NCBI36
NG_012304.2:g.9400G>A
NG_053116.1:g.13474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.822G>A MANE Select	ENSP00000309953.6:p.Gln274=
ENST00000307998.10:c.822G>A	ENSP00000309953.6:p.Gln274=
ENST00000526628.5:n.1388G>A
ENST00000527969.1:n.1507G>A
ENST00000528176.5:c.822G>A	ENSP00000434151.1:p.Gln274=
ENST00000530806.5:c.-177G>A	ENSP00000436526.1:n.-177G>A
ENST00000531005.5:n.1816G>A
ENST00000531972.5:c.822G>A	ENSP00000435295.1:p.Gln274=
ENST00000532084.5:n.248G>A
NM_016938.4:c.822G>A	NP_058634.4:p.Gln274=
NR_037718.1:n.1081G>A
NM_016938.5:c.822G>A MANE Select	NP_058634.4:p.Gln274=
NR_037718.2:n.947G>A