Canonical Allele Identifier: CA1979444466

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868479G= , CM000673.2:g.65868479G=	GRCh38
NC_000011.9:g.65635950G= , CM000673.1:g.65635950G=	GRCh37
NC_000011.8:g.65392526G=	NCBI36
NG_012304.2:g.9456C=
NG_053116.1:g.13418G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+31C= MANE Select	ENSP00000309953.6:n.847+31C=
ENST00000307998.10:c.847+31C=	ENSP00000309953.6:n.847+31C=
ENST00000526628.5:n.1413+31C=
ENST00000528176.5:c.847+31C=	ENSP00000434151.1:n.847+31C=
ENST00000528409.1:n.34C=
ENST00000530806.5:c.-152+31C=	ENSP00000436526.1:n.-152+31C=
ENST00000531005.5:n.1841+31C=
ENST00000531972.5:c.847+31C=	ENSP00000435295.1:n.847+31C=
ENST00000532084.5:n.273+31C=
NM_016938.4:c.847+31C=	NP_058634.4:n.847+31C=
NR_037718.1:n.1106+31C=
NM_016938.5:c.847+31C= MANE Select	NP_058634.4:n.847+31C=
NR_037718.2:n.972+31C=