Canonical Allele Identifier: CA381354340

Gene: EFEMP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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