Canonical Allele Identifier: CA2614405976

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868681-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868681C>T , CM000673.2:g.65868681C>T	GRCh38
NC_000011.9:g.65636152C>T , CM000673.1:g.65636152C>T	GRCh37
NC_000011.8:g.65392728C>T	NCBI36
NG_012304.2:g.9254G>A
NG_053116.1:g.13620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-52G>A MANE Select	ENSP00000309953.6:n.728-52G>A
ENST00000307998.10:c.728-52G>A	ENSP00000309953.6:n.728-52G>A
ENST00000526628.5:n.1242G>A
ENST00000527969.1:n.1361G>A
ENST00000528176.5:c.728-52G>A	ENSP00000434151.1:n.728-52G>A
ENST00000531005.5:n.1722-52G>A
ENST00000531972.5:c.728-52G>A	ENSP00000435295.1:n.728-52G>A
ENST00000532084.5:n.154-52G>A
NM_016938.4:c.728-52G>A	NP_058634.4:n.728-52G>A
NR_037718.1:n.987-52G>A
NM_016938.5:c.728-52G>A MANE Select	NP_058634.4:n.728-52G>A
NR_037718.2:n.853-52G>A