Canonical Allele Identifier: CA475316677

Gene: EFEMP2

Linked Data

• dbSNP Id: rs200285623
• MyVariant Identifiers: chr11:g.65635888A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868417A>G , CM000673.2:g.65868417A>G	GRCh38
NC_000011.9:g.65635888A>G , CM000673.1:g.65635888A>G	GRCh37
NC_000011.8:g.65392464A>G	NCBI36
NG_012304.2:g.9518T>C
NG_053116.1:g.13356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.852T>C MANE Select	ENSP00000309953.6:p.Ile284=
ENST00000307998.10:c.852T>C	ENSP00000309953.6:p.Ile284=
ENST00000525392.1:n.13T>C
ENST00000526628.5:n.1418T>C
ENST00000528176.5:c.852T>C	ENSP00000434151.1:p.Ile284=
ENST00000528409.1:n.96T>C
ENST00000530806.5:c.-147T>C	ENSP00000436526.1:n.-147T>C
ENST00000531005.5:n.1846T>C
ENST00000531972.5:c.852T>C	ENSP00000435295.1:p.Ile284=
ENST00000532084.5:n.278T>C
NM_016938.4:c.852T>C	NP_058634.4:p.Ile284=
NR_037718.1:n.1111T>C
NM_016938.5:c.852T>C MANE Select	NP_058634.4:p.Ile284=
NR_037718.2:n.977T>C