Canonical Allele Identifier: CA381354337

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635982T>A (hg19) ; chr11:g.65868511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868511T>A , CM000673.2:g.65868511T>A	GRCh38
NC_000011.9:g.65635982T>A , CM000673.1:g.65635982T>A	GRCh37
NC_000011.8:g.65392558T>A	NCBI36
NG_012304.2:g.9424A>T
NG_053116.1:g.13450T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.846A>T MANE Select	ENSP00000309953.6:p.Gln282His
ENST00000307998.10:c.846A>T	ENSP00000309953.6:p.Gln282His
ENST00000526628.5:n.1412A>T
ENST00000527969.1:n.1531A>T
ENST00000528176.5:c.846A>T	ENSP00000434151.1:p.Gln282His
ENST00000528409.1:n.2A>T
ENST00000530806.5:c.-153A>T	ENSP00000436526.1:n.-153A>T
ENST00000531005.5:n.1840A>T
ENST00000531972.5:c.846A>T	ENSP00000435295.1:p.Gln282His
ENST00000532084.5:n.272A>T
NM_016938.4:c.846A>T	NP_058634.4:p.Gln282His
NR_037718.1:n.1105A>T
NM_016938.5:c.846A>T MANE Select	NP_058634.4:p.Gln282His
NR_037718.2:n.971A>T