Canonical Allele Identifier: CA381352513

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868055G>C , CM000673.2:g.65868055G>C	GRCh38
NC_000011.9:g.65635526G>C , CM000673.1:g.65635526G>C	GRCh37
NC_000011.8:g.65392102G>C	NCBI36
NG_012304.2:g.9880C>G
NG_053116.1:g.12994G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016938.5:c.976C>G MANE Select	NP_058634.4:p.Arg326Gly
ENST00000307998.11:c.976C>G MANE Select	ENSP00000309953.6:p.Arg326Gly
NM_016938.4:c.976C>G	NP_058634.4:p.Arg326Gly
NR_037718.1:n.1235C>G
NR_037718.2:n.1101C>G
ENST00000307998.10:c.976C>G	ENSP00000309953.6:p.Arg326Gly
ENST00000525392.1:n.137C>G
ENST00000526628.5:n.1542C>G
ENST00000528176.5:c.976C>G	ENSP00000434151.1:p.Arg326Gly
ENST00000528409.1:n.209C>G
ENST00000530806.5:c.-24-42C>G	ENSP00000436526.1:n.-24-42C>G
ENST00000531005.5:n.1970C>G
ENST00000531645.5:c.124C>G	ENSP00000436521.1:p.Arg42Gly
ENST00000531972.5:c.976C>G	ENSP00000435295.1:p.Arg326Gly
ENST00000532084.5:n.402C>G