Canonical Allele Identifier: CA1979445012

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1591066167

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868660T>G , CM000673.2:g.65868660T>G	GRCh38
NC_000011.9:g.65636131T>G , CM000673.1:g.65636131T>G	GRCh37
NC_000011.8:g.65392707T>G	NCBI36
NG_012304.2:g.9275A>C
NG_053116.1:g.13599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-31A>C MANE Select	ENSP00000309953.6:n.728-31A>C
ENST00000307998.10:c.728-31A>C	ENSP00000309953.6:n.728-31A>C
ENST00000526628.5:n.1263A>C
ENST00000527969.1:n.1382A>C
ENST00000528176.5:c.728-31A>C	ENSP00000434151.1:n.728-31A>C
ENST00000531005.5:n.1722-31A>C
ENST00000531972.5:c.728-31A>C	ENSP00000435295.1:n.728-31A>C
ENST00000532084.5:n.154-31A>C
NM_016938.4:c.728-31A>C	NP_058634.4:n.728-31A>C
NR_037718.1:n.987-31A>C
NM_016938.5:c.728-31A>C MANE Select	NP_058634.4:n.728-31A>C
NR_037718.2:n.853-31A>C