Canonical Allele Identifier: CA381353287

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635814C>A (hg19) ; chr11:g.65868343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868343C>A , CM000673.2:g.65868343C>A	GRCh38
NC_000011.9:g.65635814C>A , CM000673.1:g.65635814C>A	GRCh37
NC_000011.8:g.65392390C>A	NCBI36
NG_012304.2:g.9592G>T
NG_053116.1:g.13282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.926G>T MANE Select	ENSP00000309953.6:p.Cys309Phe
ENST00000307998.10:c.926G>T	ENSP00000309953.6:p.Cys309Phe
ENST00000525392.1:n.87G>T
ENST00000526628.5:n.1492G>T
ENST00000528176.5:c.926G>T	ENSP00000434151.1:p.Cys309Phe
ENST00000528409.1:n.170G>T
ENST00000530806.5:c.-73G>T	ENSP00000436526.1:n.-73G>T
ENST00000531005.5:n.1920G>T
ENST00000531645.5:c.74G>T	ENSP00000436521.1:p.Cys25Phe
ENST00000531972.5:c.926G>T	ENSP00000435295.1:p.Cys309Phe
ENST00000532084.5:n.352G>T
NM_016938.4:c.926G>T	NP_058634.4:p.Cys309Phe
NR_037718.1:n.1185G>T
NM_016938.5:c.926G>T MANE Select	NP_058634.4:p.Cys309Phe
NR_037718.2:n.1051G>T