Canonical Allele Identifier: CA938938833

Gene: EFEMP2

Linked Data

• gnomAD v3: 11-65868483-T-C
• gnomAD v4: 11-65868483-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868483T>C , CM000673.2:g.65868483T>C	GRCh38
NC_000011.9:g.65635954T>C , CM000673.1:g.65635954T>C	GRCh37
NC_000011.8:g.65392530T>C	NCBI36
NG_012304.2:g.9452A>G
NG_053116.1:g.13422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+27A>G MANE Select	ENSP00000309953.6:n.847+27A>G
ENST00000307998.10:c.847+27A>G	ENSP00000309953.6:n.847+27A>G
ENST00000526628.5:n.1413+27A>G
ENST00000527969.1:n.1559A>G
ENST00000528176.5:c.847+27A>G	ENSP00000434151.1:n.847+27A>G
ENST00000528409.1:n.30A>G
ENST00000530806.5:c.-152+27A>G	ENSP00000436526.1:n.-152+27A>G
ENST00000531005.5:n.1841+27A>G
ENST00000531972.5:c.847+27A>G	ENSP00000435295.1:n.847+27A>G
ENST00000532084.5:n.273+27A>G
NM_016938.4:c.847+27A>G	NP_058634.4:n.847+27A>G
NR_037718.1:n.1106+27A>G
NM_016938.5:c.847+27A>G MANE Select	NP_058634.4:n.847+27A>G
NR_037718.2:n.972+27A>G