Canonical Allele Identifier: CA381353167

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635806T>G (hg19) ; chr11:g.65868335T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868335T>G , CM000673.2:g.65868335T>G	GRCh38
NC_000011.9:g.65635806T>G , CM000673.1:g.65635806T>G	GRCh37
NC_000011.8:g.65392382T>G	NCBI36
NG_012304.2:g.9600A>C
NG_053116.1:g.13274T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.934A>C MANE Select	ENSP00000309953.6:p.Thr312Pro
ENST00000307998.10:c.934A>C	ENSP00000309953.6:p.Thr312Pro
ENST00000525392.1:n.95A>C
ENST00000526628.5:n.1500A>C
ENST00000528176.5:c.934A>C	ENSP00000434151.1:p.Thr312Pro
ENST00000528409.1:n.178A>C
ENST00000530806.5:c.-65A>C	ENSP00000436526.1:n.-65A>C
ENST00000531005.5:n.1928A>C
ENST00000531645.5:c.82A>C	ENSP00000436521.1:p.Thr28Pro
ENST00000531972.5:c.934A>C	ENSP00000435295.1:p.Thr312Pro
ENST00000532084.5:n.360A>C
NM_016938.4:c.934A>C	NP_058634.4:p.Thr312Pro
NR_037718.1:n.1193A>C
NM_016938.5:c.934A>C MANE Select	NP_058634.4:p.Thr312Pro
NR_037718.2:n.1059A>C