Canonical Allele Identifier: CA381354345

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635983T>A (hg19) ; chr11:g.65868512T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868512T>A , CM000673.2:g.65868512T>A	GRCh38
NC_000011.9:g.65635983T>A , CM000673.1:g.65635983T>A	GRCh37
NC_000011.8:g.65392559T>A	NCBI36
NG_012304.2:g.9423A>T
NG_053116.1:g.13451T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.845A>T MANE Select	ENSP00000309953.6:p.Gln282Leu
ENST00000307998.10:c.845A>T	ENSP00000309953.6:p.Gln282Leu
ENST00000526628.5:n.1411A>T
ENST00000527969.1:n.1530A>T
ENST00000528176.5:c.845A>T	ENSP00000434151.1:p.Gln282Leu
ENST00000528409.1:n.1A>T
ENST00000530806.5:c.-154A>T	ENSP00000436526.1:n.-154A>T
ENST00000531005.5:n.1839A>T
ENST00000531972.5:c.845A>T	ENSP00000435295.1:p.Gln282Leu
ENST00000532084.5:n.271A>T
NM_016938.4:c.845A>T	NP_058634.4:p.Gln282Leu
NR_037718.1:n.1104A>T
NM_016938.5:c.845A>T MANE Select	NP_058634.4:p.Gln282Leu
NR_037718.2:n.970A>T