Canonical Allele Identifier: CA381353143

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635803T>G (hg19) ; chr11:g.65868332T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868332T>G , CM000673.2:g.65868332T>G	GRCh38
NC_000011.9:g.65635803T>G , CM000673.1:g.65635803T>G	GRCh37
NC_000011.8:g.65392379T>G	NCBI36
NG_012304.2:g.9603A>C
NG_053116.1:g.13271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.937A>C MANE Select	ENSP00000309953.6:p.Asn313His
ENST00000307998.10:c.937A>C	ENSP00000309953.6:p.Asn313His
ENST00000525392.1:n.98A>C
ENST00000526628.5:n.1503A>C
ENST00000528176.5:c.937A>C	ENSP00000434151.1:p.Asn313His
ENST00000528409.1:n.181A>C
ENST00000530806.5:c.-62A>C	ENSP00000436526.1:n.-62A>C
ENST00000531005.5:n.1931A>C
ENST00000531645.5:c.85A>C	ENSP00000436521.1:p.Asn29His
ENST00000531972.5:c.937A>C	ENSP00000435295.1:p.Asn313His
ENST00000532084.5:n.363A>C
NM_016938.4:c.937A>C	NP_058634.4:p.Asn313His
NR_037718.1:n.1196A>C
NM_016938.5:c.937A>C MANE Select	NP_058634.4:p.Asn313His
NR_037718.2:n.1062A>C