Canonical Allele Identifier: CA381356280

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636004A>C (hg19) ; chr11:g.65868533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868533A>C , CM000673.2:g.65868533A>C	GRCh38
NC_000011.9:g.65636004A>C , CM000673.1:g.65636004A>C	GRCh37
NC_000011.8:g.65392580A>C	NCBI36
NG_012304.2:g.9402T>G
NG_053116.1:g.13472A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.824T>G MANE Select	ENSP00000309953.6:p.Leu275Arg
ENST00000307998.10:c.824T>G	ENSP00000309953.6:p.Leu275Arg
ENST00000526628.5:n.1390T>G
ENST00000527969.1:n.1509T>G
ENST00000528176.5:c.824T>G	ENSP00000434151.1:p.Leu275Arg
ENST00000530806.5:c.-175T>G	ENSP00000436526.1:n.-175T>G
ENST00000531005.5:n.1818T>G
ENST00000531972.5:c.824T>G	ENSP00000435295.1:p.Leu275Arg
ENST00000532084.5:n.250T>G
NM_016938.4:c.824T>G	NP_058634.4:p.Leu275Arg
NR_037718.1:n.1083T>G
NM_016938.5:c.824T>G MANE Select	NP_058634.4:p.Leu275Arg
NR_037718.2:n.949T>G