Canonical Allele Identifier: CA2614405528

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868476-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868476A>G , CM000673.2:g.65868476A>G	GRCh38
NC_000011.9:g.65635947A>G , CM000673.1:g.65635947A>G	GRCh37
NC_000011.8:g.65392523A>G	NCBI36
NG_012304.2:g.9459T>C
NG_053116.1:g.13415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+34T>C MANE Select	ENSP00000309953.6:n.847+34T>C
ENST00000307998.10:c.847+34T>C	ENSP00000309953.6:n.847+34T>C
ENST00000526628.5:n.1413+34T>C
ENST00000528176.5:c.847+34T>C	ENSP00000434151.1:n.847+34T>C
ENST00000528409.1:n.37T>C
ENST00000530806.5:c.-152+34T>C	ENSP00000436526.1:n.-152+34T>C
ENST00000531005.5:n.1841+34T>C
ENST00000531972.5:c.847+34T>C	ENSP00000435295.1:n.847+34T>C
ENST00000532084.5:n.273+34T>C
NM_016938.4:c.847+34T>C	NP_058634.4:n.847+34T>C
NR_037718.1:n.1106+34T>C
NM_016938.5:c.847+34T>C MANE Select	NP_058634.4:n.847+34T>C
NR_037718.2:n.972+34T>C