Canonical Allele Identifier: CA381354389

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635984G>T (hg19) ; chr11:g.65868513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868513G>T , CM000673.2:g.65868513G>T	GRCh38
NC_000011.9:g.65635984G>T , CM000673.1:g.65635984G>T	GRCh37
NC_000011.8:g.65392560G>T	NCBI36
NG_012304.2:g.9422C>A
NG_053116.1:g.13452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.844C>A MANE Select	ENSP00000309953.6:p.Gln282Lys
ENST00000307998.10:c.844C>A	ENSP00000309953.6:p.Gln282Lys
ENST00000526628.5:n.1410C>A
ENST00000527969.1:n.1529C>A
ENST00000528176.5:c.844C>A	ENSP00000434151.1:p.Gln282Lys
ENST00000530806.5:c.-155C>A	ENSP00000436526.1:n.-155C>A
ENST00000531005.5:n.1838C>A
ENST00000531972.5:c.844C>A	ENSP00000435295.1:p.Gln282Lys
ENST00000532084.5:n.270C>A
NM_016938.4:c.844C>A	NP_058634.4:p.Gln282Lys
NR_037718.1:n.1103C>A
NM_016938.5:c.844C>A MANE Select	NP_058634.4:p.Gln282Lys
NR_037718.2:n.969C>A