Canonical Allele Identifier: CA6110803

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65872733C>T , CM000673.2:g.65872733C>T	GRCh38
NC_000011.9:g.65640204C>T , CM000673.1:g.65640204C>T	GRCh37
NC_000011.8:g.65396780C>T	NCBI36
NG_012304.2:g.5202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.-58G>A MANE Select	ENSP00000309953.6:n.-58G>A
ENST00000307998.10:c.-58G>A	ENSP00000309953.6:n.-58G>A
ENST00000527378.1:c.-7-372G>A	ENSP00000435963.1:n.-7-372G>A
ENST00000528176.5:c.-58G>A	ENSP00000434151.1:n.-58G>A
ENST00000529870.1:n.40G>A
ENST00000530850.1:c.-58G>A	ENSP00000437238.1:n.-58G>A
ENST00000531972.5:c.-58G>A	ENSP00000435295.1:n.-58G>A
ENST00000533347.5:c.-58G>A	ENSP00000435823.1:n.-58G>A
NM_016938.4:c.-58G>A	NP_058634.4:n.-58G>A
NR_037718.1:n.202G>A
NM_016938.5:c.-58G>A MANE Select	NP_058634.4:n.-58G>A
NR_037718.2:n.68G>A