Canonical Allele Identifier: CA381353173

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635807G>T (hg19) ; chr11:g.65868336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868336G>T , CM000673.2:g.65868336G>T	GRCh38
NC_000011.9:g.65635807G>T , CM000673.1:g.65635807G>T	GRCh37
NC_000011.8:g.65392383G>T	NCBI36
NG_012304.2:g.9599C>A
NG_053116.1:g.13275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.933C>A MANE Select	ENSP00000309953.6:p.Asp311Glu
ENST00000307998.10:c.933C>A	ENSP00000309953.6:p.Asp311Glu
ENST00000525392.1:n.94C>A
ENST00000526628.5:n.1499C>A
ENST00000528176.5:c.933C>A	ENSP00000434151.1:p.Asp311Glu
ENST00000528409.1:n.177C>A
ENST00000530806.5:c.-66C>A	ENSP00000436526.1:n.-66C>A
ENST00000531005.5:n.1927C>A
ENST00000531645.5:c.81C>A	ENSP00000436521.1:p.Asp27Glu
ENST00000531972.5:c.933C>A	ENSP00000435295.1:p.Asp311Glu
ENST00000532084.5:n.359C>A
NM_016938.4:c.933C>A	NP_058634.4:p.Asp311Glu
NR_037718.1:n.1192C>A
NM_016938.5:c.933C>A MANE Select	NP_058634.4:p.Asp311Glu
NR_037718.2:n.1058C>A