Canonical Allele Identifier: CA381353289

Gene: EFEMP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.926G>C MANE Select	ENSP00000309953.6:p.Cys309Ser
ENST00000307998.10:c.926G>C	ENSP00000309953.6:p.Cys309Ser
ENST00000525392.1:n.87G>C
ENST00000526628.5:n.1492G>C
ENST00000528176.5:c.926G>C	ENSP00000434151.1:p.Cys309Ser
ENST00000528409.1:n.170G>C
ENST00000530806.5:c.-73G>C	ENSP00000436526.1:n.-73G>C
ENST00000531005.5:n.1920G>C
ENST00000531645.5:c.74G>C	ENSP00000436521.1:p.Cys25Ser
ENST00000531972.5:c.926G>C	ENSP00000435295.1:p.Cys309Ser
ENST00000532084.5:n.352G>C
NM_016938.4:c.926G>C	NP_058634.4:p.Cys309Ser
NR_037718.1:n.1185G>C
NM_016938.5:c.926G>C MANE Select	NP_058634.4:p.Cys309Ser
NR_037718.2:n.1051G>C