Canonical Allele Identifier: CA381353278

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635813G>C (hg19) ; chr11:g.65868342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868342G>C , CM000673.2:g.65868342G>C	GRCh38
NC_000011.9:g.65635813G>C , CM000673.1:g.65635813G>C	GRCh37
NC_000011.8:g.65392389G>C	NCBI36
NG_012304.2:g.9593C>G
NG_053116.1:g.13281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.927C>G MANE Select	ENSP00000309953.6:p.Cys309Trp
ENST00000307998.10:c.927C>G	ENSP00000309953.6:p.Cys309Trp
ENST00000525392.1:n.88C>G
ENST00000526628.5:n.1493C>G
ENST00000528176.5:c.927C>G	ENSP00000434151.1:p.Cys309Trp
ENST00000528409.1:n.171C>G
ENST00000530806.5:c.-72C>G	ENSP00000436526.1:n.-72C>G
ENST00000531005.5:n.1921C>G
ENST00000531645.5:c.75C>G	ENSP00000436521.1:p.Cys25Trp
ENST00000531972.5:c.927C>G	ENSP00000435295.1:p.Cys309Trp
ENST00000532084.5:n.353C>G
NM_016938.4:c.927C>G	NP_058634.4:p.Cys309Trp
NR_037718.1:n.1186C>G
NM_016938.5:c.927C>G MANE Select	NP_058634.4:p.Cys309Trp
NR_037718.2:n.1052C>G