Canonical Allele Identifier: CA2574880390

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868487C>A , CM000673.2:g.65868487C>A	GRCh38
NC_000011.9:g.65635958C>A , CM000673.1:g.65635958C>A	GRCh37
NC_000011.8:g.65392534C>A	NCBI36
NG_012304.2:g.9448G>T
NG_053116.1:g.13426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+23G>T MANE Select	ENSP00000309953.6:n.847+23G>T
ENST00000307998.10:c.847+23G>T	ENSP00000309953.6:n.847+23G>T
ENST00000526628.5:n.1413+23G>T
ENST00000527969.1:n.1555G>T
ENST00000528176.5:c.847+23G>T	ENSP00000434151.1:n.847+23G>T
ENST00000528409.1:n.26G>T
ENST00000530806.5:c.-152+23G>T	ENSP00000436526.1:n.-152+23G>T
ENST00000531005.5:n.1841+23G>T
ENST00000531972.5:c.847+23G>T	ENSP00000435295.1:n.847+23G>T
ENST00000532084.5:n.273+23G>T
NM_016938.4:c.847+23G>T	NP_058634.4:n.847+23G>T
NR_037718.1:n.1106+23G>T
NM_016938.5:c.847+23G>T MANE Select	NP_058634.4:n.847+23G>T
NR_037718.2:n.972+23G>T