Canonical Allele Identifier: CA381352782

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635773A>C (hg19) ; chr11:g.65868302A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868302A>C , CM000673.2:g.65868302A>C	GRCh38
NC_000011.9:g.65635773A>C , CM000673.1:g.65635773A>C	GRCh37
NC_000011.8:g.65392349A>C	NCBI36
NG_012304.2:g.9633T>G
NG_053116.1:g.13241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.967T>G MANE Select	ENSP00000309953.6:p.Ser323Ala
ENST00000307998.10:c.967T>G	ENSP00000309953.6:p.Ser323Ala
ENST00000525392.1:n.128T>G
ENST00000526628.5:n.1533T>G
ENST00000528176.5:c.967T>G	ENSP00000434151.1:p.Ser323Ala
ENST00000528409.1:n.207+4T>G
ENST00000530806.5:c.-32T>G	ENSP00000436526.1:n.-32T>G
ENST00000531005.5:n.1961T>G
ENST00000531645.5:c.115T>G	ENSP00000436521.1:p.Ser39Ala
ENST00000531972.5:c.967T>G	ENSP00000435295.1:p.Ser323Ala
ENST00000532084.5:n.393T>G
NM_016938.4:c.967T>G	NP_058634.4:p.Ser323Ala
NR_037718.1:n.1226T>G
NM_016938.5:c.967T>G MANE Select	NP_058634.4:p.Ser323Ala
NR_037718.2:n.1092T>G